Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens
M De Braekeleer, C Ferec - MHR: Basic science of reproductive …, 1996 - academic.oup.com
This paper reviews the relationship between mutations in the cystic fibrosis (CF) gene
(CFTR mutations) and congenital bilateral absence of the vas deferens (CBAVD). Two CFTR
mutations were identified in 14.5% of the 449 men with CBAVD thus far reported in the
literature while one CFTR mutation was found in another 48.1%. CBAVD appears to be a
heterogeneous genetic condition, many cases being mild forms of cystic fibrosis, others
having no relationship with CF. The 5T allele has also been found in 46% of men with …
(CFTR mutations) and congenital bilateral absence of the vas deferens (CBAVD). Two CFTR
mutations were identified in 14.5% of the 449 men with CBAVD thus far reported in the
literature while one CFTR mutation was found in another 48.1%. CBAVD appears to be a
heterogeneous genetic condition, many cases being mild forms of cystic fibrosis, others
having no relationship with CF. The 5T allele has also been found in 46% of men with …
[图书][B] Mutations in the cystic fibrosis gene in men with congenital absence of the vas deferens
JE Mickle - 1996 - search.proquest.com
Cystic fibrosis (CF) is the most common lethal genetic disease in the Caucasian population.
CF is a single gene autosomal recessive disorder with an incidence of 1 in 2500 and a
carrier frequency of 1 in 25. The disease is characterized by elevated sweat electrolytes,
pancreatic insufficiency, pulmonary damage subsequent to Pseudomonas colonization, and
azoospermia in males. It has been hypothesized that congenital bilateral absence of the vas
deferens (CBAVD), in otherwise healthy men, is caused by defects at the CF locus. A multi …
CF is a single gene autosomal recessive disorder with an incidence of 1 in 2500 and a
carrier frequency of 1 in 25. The disease is characterized by elevated sweat electrolytes,
pancreatic insufficiency, pulmonary damage subsequent to Pseudomonas colonization, and
azoospermia in males. It has been hypothesized that congenital bilateral absence of the vas
deferens (CBAVD), in otherwise healthy men, is caused by defects at the CF locus. A multi …
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