Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients.
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Among males with CF, 95% are infertile due to congenital absence of the vas deferens. We investigated the role of family history of infertility among CF subjects and characterized mutations in them. Among 50 CF subjects, four had a family history of infertility. A homozygous c.1521_1523delCTT mutation was detected in one, two had a compound heterozygous genotype (c.1521_1523delCTT/c.3717 + 10 kbC>T), and c.1521_1523delCTT mutation was identified on one allele of fourth CF subject. Genetic analysis of each infertile family members of CF subjects revealed the c.1521_1523delCTT mutation on one allele; however, no mutation could be identified on other allele. Haplotype analysis of the infertile family members showed that at least one of the alleles shared the same haplotype as that of the index case. It is suggested that the CFTR gene is implicated in the infertile members of the CF families. Failure to detect mutations on the other allele by SSCP analysis demands direct gene sequencing to detect mutations in the intronic or promoter region.
Sharma
Neeraj
N
Department of Biochemistry, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
Singh
Meenu
M
Acharya
Naveen
N
Singh
Shrawan K
SK
Thapa
Babu R
BR
Kaur
Gurjeet
G
Prasad
Rajendra
R
D000293:Adolescent; D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007194:India; D007223:Infant; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
D019005:Cystic Fibrosis Transmembrane Conductance Regulator