CFTR Gene Mutations
Mutations in the cystic fibrosis trans membrane conductance regulator gene cause congenital bilateral absence of the vas deferens (CBAVD) in approximately 1% of the infertile males. It is a common cause of azoospermia associated with low semen volume and acidic pH. These male will have normal testicular
Approximately 80% of men with CBAVD are found to have at least one allele mutated in the CFTR gene. The most common CFTR mutation is a three base- paired deletion at position 508 that causes an in-frame deletion of a phenyloalanine. The mutant protein is known as ∆ F508 CFTR.
Congenital unilateral absence of the vas deferens (CUAVD) is a similar condition that involves aplasia of only one side of the vas deferens. It presents with infertility rarely. CFTR gene mutations have been reported in 43% of men with unilateral absence of the vas deferens.
Please use one of the following formats to cite this article in your essay, paper or report:
Dr. Reeja Tharu. (2016, November 04). Genetics of Male infertility - CFTR Gene Mutations. Medindia. Retrieved on May 22, 2022 from https://www.medindia.net/patients/patientinfo/gentmaleinfertility_cftr.htm.
Dr. Reeja Tharu. "Genetics of Male infertility - CFTR Gene Mutations". Medindia. May 22, 2022. <https://www.medindia.net/patients/patientinfo/gentmaleinfertility_cftr.htm>.
Dr. Reeja Tharu. "Genetics of Male infertility - CFTR Gene Mutations". Medindia. https://www.medindia.net/patients/patientinfo/gentmaleinfertility_cftr.htm. (accessed May 22, 2022).
Dr. Reeja Tharu. 2021. Genetics of Male infertility - CFTR Gene Mutations. Medindia, viewed May 22, 2022, https://www.medindia.net/patients/patientinfo/gentmaleinfertility_cftr.htm.