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2005| January-June | Volume 11 | Issue 1
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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
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.
An understanding the genetic basis of congenital heart disease
Smitha Ramegowda, Nallur B Ramachandra
January-June 2005, 11(1):14-23
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.
Nucleolar organising region evaluation using new NOR FISH probe
Babu V Rao, K Ghosh, D Mohanty
January-June 2005, 11(1):44-46
We have carried out chromosomal analysis in a couple with repeated spontaneous abortions (RSA). The chromosomal analysis of male revealed 15ps+ and the chromosome 15 appeared as submetacentric, C- group chromosome. First time we have attempted fluorescence in situ hybridization (FISH) using NOR probe (dJ1174 A5) and FISH analysis revealed NOR duplication on chromosome 15 which was also quantitated using Q-FISH software. The identical NOR duplication also detected in chromosome preparations from products of conception. However, NOR studies in large group of patients is necessary to understand the role of NORs in RSA.
Down syndrome child with 48,XXY,+21 karyotype
Cyril Cyrus, N Chandra, T Jegatheesan, K Chandralekha, A Ramesh, PM Gopinath, KM Marimuthu
January-June 2005, 11(1):47-48
Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa-trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband's parents and his brother showed a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.
Opportunity for natural selection among three endogamous subpopulations of Andhra Pradesh
N Lakshmi, T Venkateswara Rao, P Veerraju
January-June 2005, 11(1):39-43
The Crow's index of opportunity for natural selection has been calculated for three endogamous subpopulations namely Arya Vysya, Thrivarnika and Kalinga Vysya of North Coastal Andhra Pradesh. The total index is in the order Arya Vysya > Thrivarnika > Kalinga Vysya. However, the mortality component is more in Kalinga Vysya, reflecting the poor medical facilities available to them due to their low socio- economic profile compared to other two populations. The results of the present study are compared with those among the other caste populations of Andhra Pradesh.
Polymorphism of alpha-1-antitrypsin and association of S and Z alleles with duodenal ulcers
S Sulekha, BP Mathur, N Pratibha
January-June 2005, 11(1):24-26
Duodenal ulcers are mucosal erosions that penetrate into the muscularis propria of the duodenum. They are a result of an imbalance between aggressive and defensive factors. Various environmental factors like
infection, addictions to smoking and alcohol etc. and genetic factors have been reported to be associated with duodenal ulceration. Alpha-1-antitrypsin
was studied for its role as a genetic marker and specific allelic association to protein functioning and alteration. Serum samples from 185 normal subjects and 210 duodenal ulcer cases were typed for the phenotypes following PAGE (polyacrylamide gel electrophoresis) and immunofixation using specific commercial antisera with appropriate staining protocols. In general, 'M' allele of alpha-1-antitrypsin was found to be predominant in healthy normal subjects, with the gene frequencies being 0.679 (M), 0.299 (Z) and 0.0214 (S). Whereas in duodenal ulcer cases, Z and S alleles were found to be predominant with a significant association of MS, ZZ and MZ phenotypes (c
sub : 49.98) and the gene frequencies being 0. 113 (M), 0. 347 (Z) and 0.506 (S). Predominance of Z and S alleles indicates that these alleles may encode for reduced synthesis of alpha-1-antitrypsin, hence decreased neutralization of proteases like trypsin and chymotrypsin inhibited by alpha-1-antitrypsin, thereby resulting in ulcers. The study highlights the association of Z and S alleles of the potent protease inhibitor alpha-1-antitrypsin and also suggests its role as a genetic marker in ulcerogenesis.
Time to form a consortium to study the genetic polymorphism by using standard DNA markers
K Ghosh, MB Mukherjee, D Mohanty
January-June 2005, 11(1):3-3
LETTER TO EDITOR
T Sathish Kumar, Julius Xavier Scott
January-June 2005, 11(1):49-50
Association of erythrocyte acid phosphatase phenotypes with myopia
P Himabindu, S Vishnupriya, KP Shravankumar, Vittal V Rao, Shyam P Sunder
January-June 2005, 11(1):27-30
Acid phosphatase is a polymorphic nonspecific orthophosphate monoesterase which catalyses the cleaving of phosphoric acid and subsequent breakdown of several monophosphoric esters under acidic pH conditions. Acid phosphatase
has a physiologic function as a flavin mononucleotide phosphatase (FMN) and regulates the intracellular concentrations of flavin coenzymes that are electron carriers in the oxidative phosphorylation pathway. Myopia or nearsightedness is caused by both environmental and genetic factors. Myopic eyes when subjected to excessive oxidative stress results in retinal detachments .In the present study there is a significant elevation of AA phenotype in myopes when compared to controls. The AA phenotype is more susceptible to oxidative stress and its lower enzyme activity is known to be associated with increased intrauterine growth that further results in increased axial length in progressive myopia. The AA phenotype also confers risk for myopia development in males, early age group and cases with parental consanguinity.
Detection of Helicobactor pylori by polymerase chain reaction: A comparison in sample preparation
R Murugesan, P Bhattacharjee, PR Vivek Kumar, Mary N Mohankumar, Mangala Nagarajan, RK Jeevanram
January-June 2005, 11(1):35-38
Gastric biopsy samples obtained from 14 patients with upper abdominal pain, clinically diagnosed as acid peptic disease, were analysed for the presence of
Helicobacter pylori (H. pylori)
by Polymerase Chain Reaction (PCR) using partially (template A) and completely purified DNA (template B). Antigen specific primer was used to analyse the sample by PCR method. The presence of
in the samples was confirmed by running a positive control. The presence of
was also detected by urease method using standard protocol. Among the 14 samples studied, 8 showed the presence of
with both templates A and B. Among these 8 samples only 3 showed positive for the presence of
with urease method. The present work discusses the results obtained in the detection of
in template A and B by PCR method.
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
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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