Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.

@article{Sharma2014IncreasedFO,
  title={Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.},
  author={Himanshu Sharma and Ravimohan Suryanarayana Mavuduru and Surjit Kumar Singh and Rajendra Prasad},
  journal={Gene},
  year={2014},
  volume={548 1},
  pages={43-7}
}
High incidence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with congenital bilateral absence of the vas deferens (CBAVD) and is considered as the genital form of cystic fibrosis (CF). The CFTR gene may also be involved in the etiology of male infertility in cases other than CBAVD. The present study was conducted to identify the spectrum and frequency of CFTR gene mutations in infertile Indian males with non-CBAVD obstructive azoospermia (n… CONTINUE READING

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The present study was conducted to identify the spectrum and frequency of CFTR gene mutations in infertile Indian males with non - CBAVD obstructive azoospermia ( n=60 ) and spermatogenic failure ( n=150 ) .
Conspicuously higher frequency of heterozygote F508del mutation was detected in infertile males with non - CBAVD obstructive azoospermia ( 11.6% ) and spermatogenic failure ( 7.3% ) .
Increased frequency of CFTR gene mutations identified in Indian infertile men with non - CBAVD obstructive azoospermia and spermatogenic failure .
Two mutations in exon 25 viz . , R1358I and K1351R were identified as novel mutations in patients with non - CBAVD obstructive azoospermia .
High incidence of mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene is associated with congenital bilateral absence of the vas deferens ( CBAVD ) and is considered as the genital form of cystic fibrosis ( CF ) .
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