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- Title
188: Mutations and 5T Variants in the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Indian population with vasal agenesis.
- Authors
Sharma, Neeraj; Singh, Shrawan K.; Acharya, Naveen
- Abstract
Introduction: To investigate the spectrum of mutations in CFTR gene, their association with marker haplotypes and genotype and phenotype correlation. Methods: Forty infertile males with vasal agenesis were evaluated clinically and radiologically. Sweat chloride was estimated by pilocarpine iontophoresis. The most common delta F508 and other 8 known mutations were analysed by either ARMS PCR or restriction digestion. All 27 exons and exon- intron boundaries of CFTR were screened by SSCP analysis and direct DNA sequencing of samples showing altered mobility patterns. Results: Absence of vas deferens was bilateral in 28 patients and unilateral in 12 patients. Thirty patients (75%) carried CFTR mutations or disease-associated CFTR variants, such as the .5T. allele. We identified 18 different mutations and variants, of which nine have not been previously reported. Delta F508 was the commonest mutation. None of the patients was homozygous for delta F508 mutation and none was compound heterozygous for delta F508 and nonsense or frameshift mutation. Polymorphic 5T allele was found in 27% of these subjects. No mutations were detected in those 3 patients with unilateral absence of kidney. All analyzed delta F508 chromosomes carried the same KM.19- GATT-TUB9-M470VT854T haplotype. Pulmonary symptoms were documented in three patients. Sweat chloride concentrations were elevated in patients with CFTR mutations on both chromosomes(n=18). Conclusions: Vasal agenesis without renal malformation is a primary genital form of CF in majority of Indian patients. Distinct subset of CFTR mutation genotypes is associated with particular phenotype.
- Subjects
INDIA; GENETIC mutation; GENETIC polymorphisms; GENES; CYSTIC fibrosis; VAS deferens; HUMAN chromosomes; DISEASES
- Publication
Indian Journal of Urology, 2008, Vol 24, pS116
- ISSN
0970-1591
- Publication type
Article