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ORIGINAL COMMUNICATIONS
Genetic damage in mobile phone users: some preliminary findings
Gursatej Gandhi, Anita
May-August 2005, 11(2):99-104
DOI:10.4103/0971-6866.16810  
BACKGROUND: The impact of microwave (MW)/radio frequency radiation (RFR) on important biological parameters is probably more than a simply thermal one. Exposure to radio frequency (RF) signals generated by the use of cellular telephones have increased dramatically and reported to affect physiological, neurological, cognitive and behavioural changes and to induce, initiate and promote carcinogenesis. Genotoxicity of RFR has also been reported in various test systems after in vitro and/or in vivo exposure but none in mobile phone users. AIMS: In the present study, DNA and chromosomal damage investigations were carried out on the peripheral blood lymphocytes of individuals using mobile phones, being exposed to MW frequency ranging from 800 to 2000 MHz. METHODS: DNA damage was assessed using the single cell gel electrophoresis assay and aneugenic and clastogenic damage by the in vivo capillary blood micronucleus test (MNT) in a total of 24 mobile phone users. RESULTS: Mean comet tail length (26.76 ± 0.054 mm; 39.75% of cells damaged) in mobile phone users was highly significant from that in the control group. The in vivo capillary blood MNT also revealed highly significant (0.25) frequency of micronucleated (MNd) cells. CONCLUSIONS: These results highlight a correlation between mobile phone use (exposure to RFR) and genetic damage and require interim public health actions in the wake of widespread use of mobile telephony.
  70,955 732 39
ORIGINAL ARTICLES
Identification of a rare blood group, "Bombay (Oh) phenotype," in Bhuyan tribe of Northwestern Orissa, India
RS Balgir
September-December 2007, 13(3):109-113
DOI:10.4103/0971-6866.38985  PMID:21957358
Background: Blood group serology plays a vital role in transfusion medicine. The Bombay (Oh) phenotype is characterized by the absence of A, B, and H antigens on red cells and occurs rarely, especially in tribal populations of India. Aims and Objectives: This is a field-based random population study in the Bhuyan tribal community. The study reports three cases of the rare Bombay (Oh) phenotype for the first time in the Bhuyan tribe of Sundargarh district in North-Western Orissa. Materials and Methods: Taking informed consent, red blood cells of 836 Bhuyan subjects were tested with three antisera, i.e., anti-A, anti-B, and anti-H (lectin) for forward reaction. Agglutinations of plasma with A, B, and O (H) red cells (reverse reaction) were also tested for the presence or absence of antibodies in the serum. Specialized tests like absorption-elution, titration of naturally occurring antibodies at different temperatures, inhibition of anti-H by O saliva secretor, and determination of secretor status were performed. Results: Three cases of a rare blood group, Bombay (Oh) phenotype, (2 out of 244 Khandayat Bhuyan and 1 out of 379 Paudi Bhuyan from Hemgiri and Lahunipara blocks, respectively) in the Bhuyan tribe of Sundargarh district in North-Western Orissa were detected, giving an incidence of 1 in 122 in Khandayat Bhuyan and 1 in 379 in Paudi Bhuyan, with an average of 1 in 278 among the Bhuyan tribal population. This incidence is high in comparison to earlier studies reported from India. Conclusions: The practice of tribal and territorial endogamy in a smaller effective populations (for example, there are only 3,521 individuals in Paudi Bhuyan) results in smaller marital distance and inbreeding, leading to increased homozygous expression of rare recessive genetic characters like the Bombay (Oh) phenotype. This study further testifies that the incidence is higher in those states of India where the consanguinity is a common practice.
  28,140 418 4
ORIGINAL COMMUNICATIONS
Association of SP-D, MBL and I-NOS genetic variants with pulmonary tuberculosis
Mudit Vaid, Savneet Kaur, Madan Taruna, Hari Singh, Vijay K Gupta, KJR Murthy, Puranam U Sarma
September-December 2006, 12(3):105-110
DOI:10.4103/0971-6866.29851  
Background : Pulmonary tuberculosis is caused by Mycobacterium tuberculosis . It is a multifactorial disease with both host as well as pathogen factors contributing to susceptibility and protection from the disease. Various reports have highlighted important roles of lung surfactant protein D (SP-D), mannan-binding lectin (MBL) and I-NOS in innate immune defense against M. tuberculosis Aims : The present study investigated the role of polymorphisms in three candidate genes encoding Lung surfactant protein D, Mannan binding lectin and Inducible Nitric oxide synthase, in susceptibility and protection to pulmonary tuberculosis. Settings and Design : A case-control association study of SNP's in lung surfactant protein D (SP-D), mannan-binding lectin (MBL) and I-NOS with pulmonary tuberculosis in Indian population was carried out. This involved sequencing of all the coding exons of lung surfactant protein D (SP-D) , while, exon 1 (collagen region) and exon 4 (carbohydrate recognition domain) of mannan-binding lectin (MBL) and exons 2, 8 and 16 of I-NOS and their flanking intronic regions for single nucleotide polymorphisms in DNA samples isolated from 30 pulmonary tuberculosis patients and 30 controls of Indian population. Statistical analysis: Various allele frequencies were calculated using online two by two table (home.clara.net/sisa/). Odds ratio and P values were calculated at 95% confidence interval (CI). Results : A total of fourteen single nucleotide polymorphisms (5 in SP-D , 5 in MBL and 4 in I-NOS ) were observed of which four (G459A SP-D , G274T I-NOS , G1011A and T357G MBL ) have not been reported earlier. Four single nucleotide polymorphisms viz. G459A of exon 7 of SP-D ( P =0.00, odds ratio (OR) = 4.96, 2.18 P = 0.00 or= 3.85 1.66 P =0.00 or=4.04, 2.20< OR<7.42) and G274T of intron 16 of I-NOS ( P =0.00 or=4.46, 2.40 Conclusion: The present study has led to identification of 4 SNP's in SP-D , MBL and I-NOS associated with pulmonary tuberculosis in Indian population.
  24,827 250 1
Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases
Babu V Rao, Lily Kerketta, Seema Korgaonkar, Kanjaksha Ghosh
September-December 2006, 12(3):129-132
DOI:10.4103/0971-6866.29856  
Background: The chromosomal polymorphism of short arms of acrocentric chromosomes and heterochromatin variation of Chromosomes 1, 9, 16 and Y have been reported in humans. The pericentric inversion of Chromosome 9 is commonly seen in normal humans and the frequency estimated to be 1 to 3% in general population and inherited in mendalian fashion or might occur spontaneously without any clinical significance. Aim: The aim of the study was to study the frequency of inv(9) and its clinical correlation with human genetic diseases. Materials and Methods:0 The chromosomal analysis using GTG-banding was carried out in 3,392 cases suspected with genetic diseases. Results: The pericentric inversion frequency of different chromosomes in our study was 1.24% and frequency of inv(9)(p12q13) was high (64.29%) compared to other pericentric inversions in our study. A high frequency (9.33%) of inv(9)(p12q13) was detected in children with dysmorphic features and congenital anomalies. Conclusion: As a high frequency of inv(9)(p12q13) detected in children with dysmorphic features, the inv(9) definitely have a role in the abnormal phenotype development. During inversion event there might be loss or suppression of euchromatin chromosome region and hence detailed chromosomal break point study is important to understand the clinical significance of the pericentric inversion of Chromosome 9.
  23,755 714 13
CASE REPORTS
Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester
E Bagherizadeh, M Oveisi, Z Hadipour, A Saremi, Y Shafaghati, F Behjati
May-August 2010, 16(2):94-96
DOI:10.4103/0971-6866.69371  PMID:21031058
Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS) test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), together with maternal age. The fetus was identified as screen-positive for Edward's syndrome (trisomy 18), with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sample. The fetus's karyotype showed triploidy with 69, XXX chromosome complement in all the metaphase spreads obtained from three different cultures, using GTG banding technique. Upon termination of the fetus, gross abnormalities indicative of triploidy were present in the fetus.
  23,236 80 -
ORIGINAL ARTICLE
Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility
Hossein Mozdarani, Anahita Mohseni Meybodi, Hamideh Karimi
January-April 2007, 13(1):26-29
DOI:10.4103/0971-6866.32031  PMID:21957338
Background : One of the frequent occurrences in chromosome rearrangements is pericentric inversion of the Chromosome 9; inv (9) (p11q12), which is consider to be the variant of normal karyotype. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility. The incidence is found to be about 1.98% in the general population. Materials and Methods : We investigated the karyotypes of 300 infertile couples (600 individuals) being referred to our infertility clinic using standard GTG banding for karyotype preparation. Results : The chromosomal analysis revealed a total of 15 (2.5%) inversions, among these, 14 male patients were inversion 9 carriers (4.69%) while one female patient was affected (0.33%). The incidence of inversion 9 in male patients is significantly higher than that of normal population and even than that of female patients (P<0.05). Conclusions : This result suggests that inversion 9 may often cause infertility in men due to spermatogenic disturbances, which are arisen by the loops or acentric fragments formed in meiosis.
  17,808 564 10
CASE REPORTS
A Sri Lankan child with 49,XXXXY syndrome
Vajira H.W Dissanayake, Palinda Bandarage, Christeen R.J Pedurupillay, Rohan W Jayasekara
September-December 2010, 16(3):164-165
DOI:10.4103/0971-6866.73413  PMID:21206706
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.
  15,522 92 2
REVIEW ARTICLE
Connexin 26 and autosomal recessive non-syndromic hearing loss
Monisha Mukherjee, SR Phadke, Balraj Mittal
July-December 2003, 9(2):40-50
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60% respectively. Autosomal recessive non-syndromic hearing loss (ARNSHL) is responsible for 80% cases of childhood deafness. Nearly all genes localized for ARNSHL cause prelingual, severe to profound, sensorineural hearing impairment. ARNSHL is genetically heterogeneous and at least 39 loci have been identified. The most significant finding to date has been the discovery of mutations in GJB2 gene at the DFNB1 locus on chromosome 13q12 as the major cause of profound prelingual deafness. This was first reported in a Tunisian family in 1994 and thereafter in many different countries. GJB2 gene encodes the gap-junction protein, connexin 26 (Cx26), mutations in which have become the first genetic marker of inherited hearing loss. Allele-specific polymerase chain reaction (AS-PCR), single stranded conformation polymorphism (SSCP) and sequencing methods have been developed for the detection of mutations in Cx26 gene. In India as well, the Cx26 mutations are being screened in families with hearing impaired children using these molecular methods. Therefore, in order to create awareness among the clinicians and the affected families; we have attempted to review the Cx26 gene mutations responsible for autosomal recessive type of non-syndromic hearing loss. The efficacy and utility of Cx26 gene analysis might open the path to proper counseling of families for carrier detection and prenatal diagnosis. It may even facilitate the development of strategies in future for the treatment of this common genetic disorder.
  14,094 339 -
Contribution of genomics, proteomics, and single-nucleotide polymorphism in toxicology research and Indian scenario
S Patel, D Parmar, YK Gupta, MP Singh
May-August 2005, 11(2):61-75
DOI:10.4103/0971-6866.16804  
Advancement in the molecular tools used in toxicology has provided immense information about the cellular and global structure and function of toxicant-responsive genes. Now, it has become possible to assess the functional activity of genes and proteins involved in various toxicological pathways, which were not possible with the conventional methods. Many genes are known to have a greater influence on the susceptibility to environmental agents than others; therefore, identification and characterization of polymorphism in such genes for the determination of early, late, or no response of an individual for the toxicant-induced diseases has also become mandatory. Toxicogenomics, a newly born discipline of toxicology, comprises of two major facets, one, how various genes in the genome respond to environmental toxicants and stressors and second, how toxicants modify the function and expression of specific genes in the genome. Toxicogenomics play an important role in the identification and characterization of molecular biomarkers to predict cellular toxicity and to determine the efficacy and exposure in the toxicity trials at an early stage. Genome and proteome-wide expression profiles in combination with conventional toxicology are being used to classify compounds, predict the mechanism of toxicity of newer compounds and determine the susceptibility of an individual for the toxic responses. Single-nucleotide polymorphism in toxicant-responsive genes is being used to obtain basic information of the genetic variation and its role in the functional protein expression. Various national and international government and private organizations have launched several programs on gene-environment interactions. Council of Scientific and Industrial Research (CSIR), New Delhi, India, has also launched a program on 'toxicogenomics of genetic polymorphism in Indian population to industrial chemicals for development of biomarkers' to provide better ventures and facilities to researchers in order to understand the environment-genome interactions. In this review, the contribution of genomics, proteomics, and SNPs in toxicology along with its current status in India has been discussed
  12,603 687 5
CASE REPORTS
A rare case of congenital heart disease with ambiguous genitalia
Kusuma Lingaiah, Bharath A Parshwanath, Savitha R Mysore, Balasundaram Krishnamurthy, Nallur B Ramachandra
September-December 2010, 16(3):166-168
DOI:10.4103/0971-6866.73414  PMID:21206707
Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.
  12,791 68 1
ORIGINAL COMMUNICATIONS
Menstrual history in women with down syndrome - A review
Priya Ranganath, Sayee Rajangam
January-June 2004, 10(1):18-21
The parents of 130 Down Syndrome (DS) females aged 15 to 40 years were requested to pen the information about the menstrual cycle details. Only 10 responded to the request. In view of the absence of information on DS in India regarding menstrual history, the present investigation has been undertaken. It has given the following observations: The axillary and pubic hair is present in most of the females. Most of them have a normal voice. As for the menstrual history, the age of onset of menstruation was at an average age of 15.5 years, the previous and the present menstrual history are normal in most of them. None of the females have pain during menstruation, premenstrual tension or mid menstrual pain or spotting. Most of them need help in changing sanitary pads. One has been hysterectomized. Hence, appropriate regular gynecological care is emphasized.
  11,675 187 -
BRIEF REPORT
Chromosome 12;15 rearrangements in patients with recurrent miscarriage
SB Nair, G Mukundan, BM Paul, L Ramachandran, KK Gopinathan, Sajayan Joseph
September-December 2006, 12(3):133-139
DOI:10.4103/0971-6866.29857  
Background: An abnormal karyotype in either partner, especially featuring a translocation and/or inversion is considered to be a cause of recurrent miscarriages. It is generally assumed that recurrent miscarriage might be due to recurrent chromosomal abnormalities in the fetus due to a balanced aberration in one of the parents being inherited by the offspring in an unbalanced form. Aim: Evaluation of chromosomal rearrangements in couples with recurrent miscarriages. Materials and Methods: Peripheral blood was collected and lymphocyte cultures were set up. Slides prepared from the cell suspension were stained and screened for metaphases followed by karyotyping. Result: Balanced translocation was observed in the male partner in one case and in the female partners in the three other cases. Conclusion: Couples with recurrent miscarriage should be investigated for chromosomal rearrangements, thus helping in genetic counseling and providing the options for future pregnancies.
  11,097 362 -
CASE REPORTS
Facio-auricular vertebral syndrome-a case report
M V. V. Reddy, PP Reddy, P Usha Rani, L Hema Bindu
September-December 2005, 11(3):156-158
DOI:10.4103/0971-6866.19537  
Facio Auricular Vertebral (FAV) or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09%) case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.
  10,869 255 5
ORIGINAL COMMUNICATIONS
Heterozygosity and allele frequencies of the two VNTRs (ApoB and D1S80) in Iranian population
Nejat Mahdieh, Elham Tafsiri, Morteza Karimipour, Mohammad T Akbari
January-June 2005, 11(1):31-34
DOI:10.4103/0971-6866.16292  
Genetic markers are used for identity testing and paternity analysis depends on knowing the allele frequencies in the population. Minisatellites show allelic variability in the number of repeat units. We have studied the allele frequencies and heterozygosity of two VNTRs (ApoB and D1S80) in Iranian populations. A total of 96 and 82 chromosomes were analyzed by PCR and gel electrophoresis for ApoB and D1S80 respectively. In the ApoB system, allele 37 was the most common followed by allele 35 whereas allele 23 was the most common followed by allele18 at the D1S80 locus. Observed heterozygosity was relatively low in ApoB than D1S80 locus, however, no significant differences were found between observed and expected heterozygosity.
  10,137 666 7
Prevalence of congenital heart diseases in Mysore
R Smitha, SC Karat, D Narayanappa, B Krishnamurthy, SN Prasanth, NB Ramachandra
January-April 2006, 12(1):11-16
DOI:10.4103/0971-6866.25296  
Background: Prevalence studies on Congenital heart Diseases (CHDs) have been done several times world wide and such studies are very limited in Indian populations. A few earlier studies in India have reported an increased prevalence of CHDs ranging from 2.25 to 50.89 per 1000 live births. Aims and Objective: To study the prevalence of congenital heart diseases in Indian population. Materials and Methods: Data on the prevalence of CHDs were collected and analyzed from the three major hospitals of Mysore, Cheluvamba Hospital, CSI Holdsworth Memorial Hospital and J.S.S Hospital from the year 2000 to 2004. Results: The prevalence of CHDs for five years in Mysore hospitals ranges from 6.6 to 13.06 per 1000 live births. The most frequent type of CHD was found to be VSD (40.47%) followed by ASD (19.06%), TOF (13.38%) and PDA (9.53%). It is clear that the maximum CHDs were detected in the first year of life when compared to the later years of life. The prevalence of CHDs in Mysore is increasing from 2000 to 2004 which might be due to the improvement of diagnosis, attention or awareness among the medical authorities on the disease. Conclusion: The prevalence of CHDs in Mysore is not very high as reported in other parts of the country, however; it is an important disease which needs an immediate medical attention.
  10,363 434 17
Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR)
Shahid M Baig, F Rabbi, U Hameed, JA Qureshi, Z Mahmood, SH Bokhari, A Kiani, H Hassan, JM Baig, A Azhar, T Zaman
May-August 2005, 11(2):80-83
DOI:10.4103/0971-6866.16806  
BACKGROUND : Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS : The present study was undertaken to find the mutations causing β -thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS : A total of 285 β -globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR). RESULTS : FSC-8/9 (+G) and IVS-I-5 (G ®C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G ®C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G ®C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages. CONCLUSIONS : By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad.
  10,067 552 7
REVIEW ARTICLE
Stem cells: A new paradigm
Sachin Kumar, NP Singh
January-April 2006, 12(1):4-10
DOI:10.4103/0971-6866.25295  
Stem cell therapy is emerging as a potentially revolutionary new way to treat disease and injury, with wide-ranging medical benefits. It aims to repair damaged and diseased body-parts with healthy new cells provided by stem cell transplants. Disease and disorders with no therapies or at best, partially effective ones, are the lure of the pursuit of stem cell research. Recently a plethora of work has been done in this field in world around including India. However, Stem cell research presents many ethical and scientific questions as well as future challenges. Nevertheless, stem cell therapy, a prologue to an era of medical discovery of cell-based therapies that will one day restore function to those whose lives are now challenged every day, is still at the beginning of the road.
  9,426 791 -
CASE REPORTS
TRISOMY 18 in a 50-year-old female
B Bhanumathi, Neelam A Goyel, ZA Mishra
September-December 2006, 12(3):146-147
DOI:10.4103/0971-6866.29860  
She was brought to our Institute at the age of 31, with speech delay and mental handicap. She was assessed by the multidisciplinary team in the institute to determine the cause of her problems. Clinical evaluation revealed dysmorphic facial features, microbrachycephaly, camptodactyly, clinodactyly, abnormal dermatoglyphics and severe mental handicap. Cardiovascular system examination was normal. Chromosomal analysis revealed a trisomy of Chromosome 18. The phenotype of trisomy 18 and the rarity of prolonged survival in this case are discussed.
  9,776 174 7
REVIEW ARTICLE
Application of diagnostic methods and molecular diagnosis of hemoglobin disorders in Khuzestan province of Iran
Rahim Fakher, Kaeikhaei Bijan, Akbari Mohammad Taghi
January-April 2007, 13(1):5-15
DOI:10.4103/0971-6866.32028  PMID:21957335
Background : The hemoglobinopathies refer to a diverse group of inherited disorders characterized by a reduced synthesis of one or more globin chains (thalassemias) or the synthesis of structurally abnormal hemoglobin (Hb). The thalassemias often coexist with a variety of structural Hb variants giving rise to complex genotypes and an extremely wide spectrum of clinical and hematological phenotypes. Hematological and biochemical investigations and family studies provide essential clues to the different interactions and are fundamental to DNA diagnostics of the Hb disorders. Although DNA diagnostics have made a major impact on our understanding and detection of the hemoglobinopathies, DNA mutation testing should never be considered a shortcut or the test of first choice in the workup of a hemoglobinopathy. Materials and Methods: A careful three-tier approach involving: (1) Full blood count (2) Special hematological tests, followed by (3) DNA mutation analysis, provides the most effective way in which to detect primary gene mutations as well as gene-gene interactions that can influence the overall phenotype. With the exception of a few rare deletions and rearrangements, the molecular lesions causing hemoglobinopathies are all identifiable by PCR-based techniques. Furthermore, each at-risk ethnic group has its own combination of common Hb variants and thalassemia mutations. In Iran, there are many different forms of a and β thalassemia. Increasingly, different Hb variants are being detected and their effects per se or in combination with the thalassemias, provide additional diagnostic challenges. Results:We did step-by-step diagnosis workup in 800 patients with hemoglobinopathies who referred to Research center of Thalassemia and Hemoglobinopathies in Shafa Hospital of Ahwaz Joundishapour University of medical sciences, respectively. We detected 173 patients as iron deficiency anemia (IDA) and 627 individuals as thalassemic patients by use of different indices. We have successfully detected 75% (472/627) of the β -thalassemia mutations by using amplification refractory mutation system (ARMS) technique and 19% (130/627) of the β -thalassemia mutations by using Gap-PCR technique and 6% (25/627) as Hb variants by Hb electrophoresis technique. We did prenatal diagnosis (PND) for 176 couples which had background of thalassemia in first pregnancy. Result of PND diagnosis in the first trimester was 35% (62/176) affected fetus with β -thalassemia major and sickle cell disease that led to termination of the pregnancy. Conclusion:Almost all hemoglobinopathies can be detected with the current PCR-based assays with the exception of a few rare deletions. However, the molecular diagnostic service is still under development to try and meet the demands of the population it serves. In the short term, the current generation of instruments such as the capillary electrophoresis systems, has greatly simplified DNA sequence analysis.
  8,998 763 11
REVIEW ARTICLES
DNA profiling: Social, legal, or biological parentage
AK Sharma
September-December 2007, 13(3):88-92
DOI:10.4103/0971-6866.38981  PMID:21957354
DNA profiling in forensic casework is based on comparison of the results of biological evidence with direct reference samples of the individual concerned or with indirect references of his close blood relatives. The selection of reference samples for analysis is crucial to the success of a case; it not only depends on the authenticity of the reference samples, but also on the authenticity of the biological relation of the donors with the person in question. There are situations when the social or legal relationship is not the biological one and there is a need to educate investigating officers, forensic analysts, and the judiciary about the associated problems.
  8,751 448 2
REVIEW ARTICLE
An understanding the genetic basis of congenital heart disease
Smitha Ramegowda, Nallur B Ramachandra
January-June 2005, 11(1):14-23
DOI:10.4103/0971-6866.16289  
The recent exponential increase in the knowledge of genetics has revolutionized the understanding of congenital heart diseases (CHDs) during the past few decades. Prior studies have reported the influence of Mendelian disorders on CHDs to be very small, when compared to the polygenic inheritance, which constituted a higher percentage. The recent findings of candidate genes responsible for CHDs have provided new insights into the genetic basis of heart malformation. Here we reviewed the understandings of different types of heart lesions associated with syndromes for which genetic etiologies are apparent, as well as the recent developments involving the molecular pathways involved in CHDs in case of human beings. The similar mutations, which are the devastating events of molecular mechanism, may be the cause of different types of CHDs indicating single gene defects as the cause of different apparent phenotypes. An integrated simple model will explain the causes of presently well known CHDs. This review provides updated information on the genetic basis for cardiac defects which helps to understand, identify, prevent and treat individuals who might be at risk at an early stage. There is a need to find heart defects as early as possible so that they can be treated while the heart is still forming.
  8,626 533 6
ORIGINAL ARTICLE
Detection of Y STR markers of male fetal dna in maternal circulation
Seema P Nair, Sam Peter, VV Pillay, UM Remya, R Krishnaprasad, B Rajammal
May-August 2007, 13(2):69-72
DOI:10.4103/0971-6866.34710  PMID:21957349
Background: Circulating fetal cells and cell free DNA in the maternal blood has been shown to help in prenatal diagnosis of genetic disorders without relying on invasive procedures leading to significant risk of pregnancy loss. Aim: The current study was undertaken to detect the male fetal population using Y STR markers DYS 19, DYS 385 and DYS 392 and also to study the extent of persistence of fetal DNA in the mother following delivery. Materials and Methods: Blinded study was conducted on 50 mothers delivering male and female babies. Cellular and cell free DNA was extracted from maternal and fetal cord blood and amplified for Y STR markers by PCR. Results: The amplification sensitivity of Y specific STR, DYS19 was 100% (22/22) in the male fetal DNA samples. The incidence of other STRs, i.e., DYS385 and DYS392 were 91% (20/22) each. Analysis of results revealed that thirteen of the twenty six women had detectable male fetal DNA at the time of delivery. However fetal DNA was not detectable twenty four hours after delivery. Conclusion: Preliminary results show that the separation of fetal cell-free DNA in the maternal circulation is a good low-cost approach for the future development of novel strategies to provide non-invasive techniques for early prenatal diagnosis.
  8,803 326 -
REVIEW ARTICLE
The impact of consanguinity on the Indian population
AH Bittles
July-December 2002, 8(2):45-51
Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of consanguinity continues to attract great attention among geneticists and social scientists. The strengthening of family relationships is of primary importance in the preference for close kin unions, with economic benefits an additional consideration. Consanguinity does not appear to adversely affect human fertility. However, both postnatal morbidity and mortality are increased, with greatest effect so far observed in the early years of life. With declining mortality and morbidity due to infectious disease, recessive genetic disorders will progressively gain greater prominence in the overall spectrum of ill-health. This change will be especially obvious in communities which practise consanguineous marriage, and in small highly endogamous communities where random drift occurs.
  8,561 465 12
SHORT COMMUNICATION
Genetic heterogeneity of population structure in 15 major scheduled tribes in central-eastern India: A study of immuno-hematological disorders
RS Balgir
May-August 2006, 12(2):86-92
DOI:10.4103/0971-6866.27792  
Background:0 The aboriginal tribes of India constitute an important segment of the society in the world. Though a large number of genetic studies have been carried out in India, the genetic data of the populations in the state of Orissa are very limited, especially pertaining to the indigenous tribal people. Most of the earlier studies were restricted to either a single tribe or a few genetic markers. Data on population structure of tribal communities of Orissa pertaining to common hemolytic disorders and genetic variations are still scanty. AIMS AND OBJECTIVES: In view of the limited data available on the tribes and the huge tribal population, a cross-section of ashram schools was investigated for immuno-hematological disorders in relation to geographical, linguistic and genetic variations. MATERIALS AND METHODS: A cross-section of 15 major scheduled tribes in ashram schools from eight districts of Orissa was randomly studied for five hereditary immuno-hematological markers, namely, the ABO and Rhesus (D) blood groups, sickle cell hemoglobinopathy, β -thalassemia syndrome and G-6-PD deficiency, following the standard hematological procedures and techniques. RESULTS: A preponderance of blood group B over A and low incidence of Rhesus-negative (D-) among Bathudi, Bhuyan, Kissan, Kolha, Kondh, Munda oraon, Paraja, Santal and Saora tribes was observed. The deficiency of G-6-PD enzyme was found to be quite high, varying from 5.1 to 15.9% among these scheduled tribes of Orissa. Both deficient female heterozygotes and homozygotes were encountered. Marked variation was seen in the prevalence of β -thalassemia trait, varying from 0 to 8.5%, in the aboriginal tribes. The frequency of sickle cell disorders was found to vary from 0 to 22.4% among the major tribes, but it was comparatively higher in Paraja (21.5%), Dhelki Kharia (13.7%), Gond (11.9%) and Bhatra (10.5%) tribes. CONCLUSIONS: The study showed genetic heterogeneity and diversity with respect to above immuno-hematological genetic markers and indicated not only the inter-tribal admixture but also diffusion with other racial groups of India. Further, the heterogeneous tribal populations from Orissa were found to harbor almost all major hemoglobinopathies. This is the first comprehensive study of immuno-hematological disorders among the scheduled tribes from the state of Orissa.
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REVIEW ARTICLE
Past, present and future perspectives of genetic therapy in gliomas
Tobias Alécio Mattei, Ricardo Ramina, Marcos Tatagiba, Paulo Henrique Aguiar
January-June 2005, 11(1):4-13
DOI:10.4103/0971-6866.16288  
High-grade gliomas are relatively frequent in adults and consist in the most malignant form of primary brain tumor. They are resistant to standard treatment modalities such as surgery, radiation, and chemotherapy, being fatal within 1 to 2 years of onset of symptoms. Owing to the promising practical clinical benefits that can be expected for the near future, an exposition of the basic issues in genetic therapy of gliomas seems timely. In this article we intend to provide a general review that covers the most important genes already studied as possible agents for genetic therapy in gliomas. In a critical analysis we intend to expose and discuss anti-tumoral mechanisms and therapeutical results of studies with the following class of genes: prodrug activation systems, apoptosis-related genes, anti-angiogenic factors genes, radiosensitization genes, chemosensitization genes, apoptosis-related genes and immunogenes. Finally we discuss the historical importance, actual role and further developments that can be expected from each of these class of agents for the future of genetic therapy of gliomas.
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