Users online: 126
Export selected to
Citation statistics : Table of Contents
2004| July-December | Volume 10 | Issue 2
Most popular articles
Most cited articles
Show all abstracts
Show selected abstracts
Export selected to
Physical growth of children with sickle cell disease
Malay B Mukherjee, RR Gangakhedkar
July-December 2004, 10(2):70-72
Anthropometric measurements were used to study the physical growth of 58 sickle cell disease(SS) children with severe clinical manifestations and compared with 86 normal(AA) children from Nagpur district of Maharashtra. Both sickle cell disease male and female children were shown to have statistically significant lower weights, heights, sitting heights, mid arm circumferences, skin fold thickness and body mass indexes but not upper/ lower segment ratio as compared to normal children with comparable sex and ages. No significant differences were observed between the male and female children with sickle cell disease or normal for any of the anthropometric measurements. A significant lower values of all the measurements except U/L ratio was observed in the age group of 11-14 years than the earlier age among the sickle cell disease children as compared to the normal children of the same age and sex groups. Thus, these results indicate that as a group, children with sickle cell disease weigh less, are shorter and undernourished as compared to normal children.
Molecular analysis of the (CAG)N repeat causing Huntington's disease in 34 Iranian families
F Hormozian, Massoud Houshmand, MH Sanati, R Ghiasvand, MM Banoie
July-December 2004, 10(2):53-57
Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG) n at the 5' end of the IT 15 gene on chromosome 4. We have analyzed the distribution of CAG repeats in 71 Iranian individuals (34 patients and 37 unaffected family members) belonging to 31 unrelated families thought to segregate
. We found one expanded CAG allele in 22 individuals (65%) belonging to 21 unrelated families. In these
patients, expanded alleles varied from 40 to 83 CAG units and normal alleles varied from 13 to 36 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r= - 0.51;
=0. 1). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 10 to 34 units. In conclusion, our results showed that molecular confirmation of the clinical diagnosis in
should be sought in all suspected patients, making it possible for adequate genetic counseling. This Study is the first report of molecular diagnosis of Huntington disease among Iranian population and ever in Middle East and with regard to high frequency of consanguinity marriage in this region.
Study of families of nonsyndromic hearing impairment segregating with mutations in Cx26 gene
PV Ramchander, VU Nandur, K Dwarakanath, S Vishnupriya, T Padma
July-December 2004, 10(2):58-64
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most common form with profound hereditary hearing impairment linked to DFNB1 locus (connexin26 gene) at 13q12. Mutations in connexin26 (Cx26) gene are known to be frequently associated with ARNSHI. Here, we report results on 13 families with NSHI screened for entire coding region of Cx26 using ARMS-PCR, restriction digestion analysis, SSCP and sequencing. Cx26 mutations were found in seven of the 13 families with inheritance of W24X (G to A at 71bp) in six and R127H (G to A at 380bp) in one of them. The observations imply that the G to A transition at position 71 in exon2 of Cx26 gene could play a major role in the phenotypic expression of recessive hearing impairment while R127H could be an associated polymorphism in Indian population.
Red blood cell membrane - Is it a mirror for systemic non-hematological genetic disorders?
July-December 2004, 10(2):39-40
HLA Chimerism in allogenic haplo-identical peripheral blood stem cell transplant
Sonal U Chhaya, Rajesh B Sawant, Sunil B Rajadhyaksha
July-December 2004, 10(2):76-77
HLA antigens were used as markers to establish the presence of chimerism (i.e. simultaneous presence of two lymphocyte populations from recipient as well as donor) in a patient with chronic granulomatous disease treated with one haplotype matched stem cell transplant. Neutrophil engraftment occurred on Day 6 post peripheral blood stem cell transplant (PBSCT). Platelet counts were maintained above 20x10/L. Six months after the allogenic PBSCT, lymphocyte population was chimeric and cells of both donor (father) and host HLA type were present. The patient revealed a shift in his HLA antigen profile and there was evidence of donor cell engraftment. The HLA phenotype A26,CwXX,B8,DRB1*03//A32,Cw4,B35,DRB1*16// represented his true phenotype whereas A11,Cw7,B62,DRB1*14 represented donor (father) origin.. HLA system as a genetic marker is a useful additional approach to determine engraftment following an allogenic haplo-identical stem cell transplantation.
AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q)
Sonal R Bakshi, Shambhu K Roy, Pina J Trivedi, Manisha M Brahmbhatt, Shwetal M Rawal, Purvi M Kakadia, Samarth S Bhatt
July-December 2004, 10(2):78-80
We report a case of Acute Myeloid Leukemia with clinical features suggestive of AML-M3 and 46,XX,t(8;21),del(9q),der(18)t(1;18) karyotype leading to the final diagnosis AML-M2 in light of t(8;21). The Deletion (9q) is a frequent secondary anomaly to the t(8;21)(q22;q22) in AML-M2. In addition to these two AML-M2 related rearrangements we also observed der(18)t(1;18)(q2?;p11.3) which may be an unusual rearrangement. This rearrangement resulted into partial trisomy of chromosome #1(q2?) without the loss of any part of chromosome 18, morphologically. Rearrangements of long arm of chromosome 1 that result in complete or partial trisomy for 1q mostly involved the region q25-q32, which may confer a proliferation advantage.
LETTER TO EDITOR
Is this cystic fibrosis?
July-December 2004, 10(2):81-82
Lack of association of NAT2 (N-acetyl transferase 2) gene polymorphism with atopic asthma in Turkish subjects
Berrin Bagci Ceyhan, Ariadna Burgos, Lyle J Palmer, Jeffrey Drazen
July-December 2004, 10(2):65-69
It has been shown that slow acetylation may be a risk factor that influences the development of allergic diseases. N-acetyltransferase2 (NAT2), an enzyme that degrades autocoids and drugs, shows a bimodal distribution of rapid and slow acetylators with broad interethnic variation. This case-control study was designed to investigate the association of genotypes that encode slow and rapid activity of NAT2 with asthma and asthma severity in the Turkish population. Turkish unrelated atopic subjects with asthma (n=57) and unrelated healthy subjects (n=56) were enrolled in this case-control study. The locus coding for NAT2 was genotyped by means of the polymerase chain reaction. Multivariate logistic regression models were constructed to investigate the relationship between NAT2 genotypes and case-control status.The frequency of slow acetylators inferred from NAT2 genotype was not significantly different in asthmatic subjects (47%) and healthy subjects (43%) (
<0.55). No significant association was found between NAT2 genotype and either disease severity or duration within the case group (
<0.17, respectively). This study suggests that the NAT2 (slow acetylation) genotype is not a marker of predisposition for atopic asthma and severity of asthma in the Turkish population.
Family based analysis of quantitative changes of erythrocyte membrane proteins in essential hypertension
Vladimir P Ivanov, Alexey V Polonikov, Oksana G Emeliyanova, Mariya A Solodilova, Irina A Mandrik
July-December 2004, 10(2):46-52
Our previous studies have found significant quantitative changes in the erythrocyte membrane proteins in essential hypertension (EH). The purpose of the present study was to quantify genetic and environmental contributions to quantitative variability of erythrocyte membrane proteins in EH. We studied 115 hypertensive patients, 126 normotensive subjects, 235 of their first-degree relatives and 24 twin pairs by sodium dodecyl sulphate (SDS) polyacrylamide gel electrophoresis. The decomposition of total phenotypic variance of erythrocyte membrane proteins to genetic and environmental components was performed by the least squares method. We found that genetic factors play a significant role in the control of quantitative changes in erythrocyte membrane proteins in EH. The genetic contribution to anion exchanger variation was stronger in hypertensives (88%) than in normotensives (36%), and was attributed exclusively to additive polygenic effects. Variation in glucose transporter was under marked control of major gene effect (74%). Importantly, variations in anion and glucose transporters in EH but not in healthy controls were strongly affected by common underlying genes with strong pleiotropic effects (r=0.921,
<0.05). These data provide evidence to support the genetic source of quantitative changes in membrane proteins in EH. Furthermore, the pleiotropic effects of common underlying genes seem to be responsible for variations in the transport proteins likely associated with genetic susceptibility to essential hypertension.
The diagnostic potential of maternal plasma in detecting fetal diseases by DNA test
July-December 2004, 10(2):41-45
Conventionally, DNA based investigations for fetal diseases are done by chorionic villous sampling and amniocentesis. Both are invasive techniques. Recently, molecular diagnosis has also been made possible in early pregnancy from maternal blood which is noninvasive and advantageous. Most of the researches have tried to identify the Y chromosome marker(s) to detect a male fetus and paternally inherited allele. This is currently helpful to detect a very few genetic disorders including Rh D status in Rh negative women in early pregnancy and preeclampsia a few weeks preceding the clinical onset. This is a potential area for prenatal diagnosis in future.
Mitotic index in down syndrome - Is it an indicator of immunological status
Priya Ranganath, Geetha Suresh, Amudha Subramaniam, Sayee Rajangam
July-December 2004, 10(2):73-75
Down syndrome (DS) is a condition in which the genes on chromosome 21 occur in three copies. This is supposed to influence the growth in the tissues of the body and this could lead to a decreased mitotic index. In view of this, the present investigation was carried out using peripheral lymphocyte culture to find out whether there is a change in mitotic index in DS patients. Mitotic index in male and female patients was reduced to an average of 3.64 and 3.82 respectively. Thus, the index could be an indicator of the reduced immunological status of the individual with DS.
Copyright and Disclaimer
© 2006 -
Online since 1