• PMID: 24327157
• Gene Name: CFTR
• Condition: Congenital bilateral absence of vas deferens (CBAVD)
• Association: This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.
• Mutation: 5T polymorphism
• Population size: 132
• Population details: 132 (33 individuals with CBAVD, 99 azoospermic males with CBAVD)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of vas deferens (CBAVD)

[Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients]

Liu LJ, Li HG, Gu X, Zhu JW, Zhao K, Tang YP, Xiong CL.

OBJECTIVE: To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males. METHODS: Genomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced. RESULTS: CFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles. CONCLUSION: This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene. FAU - Liu, Li-jun AU - Liu LJ AD - Family Planning Research Institute, Tongji Specialized Hospital of Reproductive Medicine, Tongji Medical School, Hua-zhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China. yptang63@hotmail.com. FAU - Li, Hong-gang AU - Li HG FAU - Gu, Xiuli AU - Gu X FAU - Zhu, Ji-wang AU - Zhu JW FAU - Zhao, Kai AU - Zhao K FAU - Tang, Yan-ping AU - Tang YP