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2003| July-December | Volume 9 | Issue 2
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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
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.
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
gene. In India as well, the
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
gene mutations responsible for autosomal recessive type of non-syndromic hearing loss. The efficacy and utility of
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.
Study of vitamin-D receptor (VDR) gene start codon polymorphism (Fok I) in healthy individuals from North India
H K' Bid, RD Mittal
July-December 2003, 9(2):51-54
The vitamin D receptor (VDR) gene Fok I polymorphism represents a strong positional candidate susceptibility gene for different diseases like Prostate cancer, Urolithiasis, Inflammatory bowl disease and Osteoporosis. This genetic variation has also been of great interest due to its possible association with polygenic diseases. Allelic frequencies of the F/f start codon polymorphism of VDR gene vary among populations but there is no data regarding its distribution from India. The present study was carried out to determine the normal distribution of VDR gene Fok I polymorphism by using a PCR-based restriction analysis in unrelated normal healthy individuals from North India. We obtained an allelic frequency of 71.5% and 28.5% for (F) and (f) allele and the percentage of genotypes FF, Ff and ff as 46%, 51% and 3% respectively. Our results suggest that the frequency and distribution of this polymorphism in Indian population is substantially different from other populations and ethenic groups.
Plasma Lipoprotein (a) levels in patients with untreated essential hypertension
BA Bhavani, T Padma, BKS Sastry, N Krishna Reddy
July-December 2003, 9(2):65-68
Lipoprotein (a) [Lp (a)] is considered as a risk factor for vascular diseases, especially those associated with renal failure. Adequate studies have not been conducted on the lipoprotein (a) in essential hypertensive patients. There is a controversy on the mechanisms by which Lp (a) is associated with essential hypertension. It is unclear whether Lp (a) contributes to atherogenesis or to thrombogenesis or both. Recent studies suggest that Lp (a) can act as a marker for determining vascular or tissue injury. Reports on Indian population indicate elevated levels of Lp (a), together with other serum lipoproteins emphasizing an important role in Coronary Heart Disease (CHD) and peripheral atherosclerosis. In the present study we aimed to evaluate the relation between plasma levels of Lp (a) and the parameters of the lipid profile in a group of essential hypertensive patients, who are not receiving pharmacological treatment and with no clinical signs of associated pathologies or organ damage. A total of 37 essential hypertensive patients (27 men and 10 women) were compared with 50 controls (32 men and 18 women). It was observed that the hypertensive patients had higher plasma concentrations of Lp (a), Total Cholesterol (TC), Low-Density Lipoprotein-Cholesterol (LDL-C), and Triglycerides (TG) as compared to controls
Hypertensive patients were also observed to have significantly low levels of High-Density Lipoprotein Cholesterol levels (HDL-C) as compared to controls
Only 14 hypertension patients and 4 controls had plasma concentrations of Lp (a) of over 30 mg/dl. Lp (a) values correlated significantly (
) with systolic blood pressure (SBP), diastolic blood pressure (DBP) and the main parameters of the lipid profile. We conclude that elevated plasma Lp (a) levels were associated with hypertension and show significant correlation with lipid levels. However higher plasma concentrations of Lp (a), albeit with in the normal range, could be an independent risk factor for atherosclerosis, and could contribute towards increasing the risk for cardiovascular disease in persons with essential hypertension.
Selection intensity among Kshatriyas an endogamous population of Andhra Pradesh
Priya B Dharani, Veerraju P, T Venkateswara Rao
July-December 2003, 9(2):69-73
Opportunity for natural selection has been studied among the women of Kshatriya caste population from rural and urban areas of north coastal Andhra Pradesh. The urbanrural difference for different demographic characteristics is not significant. The contribution of fertility component for both Crow's index and Jonston and Kensinger's index is more. The present study is compared with other Andhra populations. The decreased mortality differentials in Kshatriyas suggest that this component was directly affected by the better socio-economic level and reflects on the population's transitional phase.
Molecular phylogenetics and functional evolution of major RNA recognition domains of recently cloned and characterized autoimmune RNA -binding particle
July-December 2003, 9(2):55-64
Heterogeneous nuclear ribonucleoproteins (hnRNPs) are spliceosomal macromolecular assemblages and thus actively participate in pre-mRNA metabolism. They are composed of evolutionarily conserved tandemly repeated motifs, where both RNA-binding and protein-protein recognition occur to achieve cellular activities. By yet unknown mechanisms these ribonucleoprotein particles are targeted by autoantibodies and hence play significant role in variety of human systemic autoimmune diseases. This feature makes them important prognostic markers in terms of molecular epidemiology and pathogenesis of autoimmunity. Since ribonucleoprotein (RNP) domain is one of the most conserved and widespread scaffold, evolutionary analyses of these RNA-binding domains can provide further clues on disease-specific epitope formation. The study presented herein represents a sequence comparison of RNA-recognition regions of recently cloned and characterized human hnRNP A3 with those of other relevant hnRNP A/B-type proteins. Their implications in human autoimmunity are particularly emphasized.
The Fourth European Cytogenetics Conference, Italy Sept. 2003: A report
Prochi F Madon
July-December 2003, 9(2):74-75
Advances in Genetics: A new direction and distinct medical voice
July-December 2003, 9(2):39-39
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