• PMID: 24551851
• Gene Name: CFTR
• Condition: Congenital bilateral absence of the vas deferens
• Association: The 5T allele of intron 8 of CFTR has clinically significant association with CBAVD. TG13T5 and TG12T5 homozygously led to CBAVD, and TG12T5-V470 may also lead to CBAVD.
• Mutation: TG13T5, TG12T5, TG12T5-V470
• Population size: 192
• Population details: 192 (89 patients with CBAVD, 103 healthy males)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of the vas deferens

The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens

Du Q, Li Z, Pan Y, Liu X, Pan B, Wu B.

PURPOSE: To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD). METHODS: Eighty-nine male patients with CBAVD and 103 healthy males were included in this study. Polymerase chain reaction was performed to amplify the polymorphic regions using primers from conserved regions. M470V was genotyped using real-time PCR by cycling probe. The exon 9 DNA sequence was determined using an automated sequencer. TG-repeats and poly-T were identified by direct sequencing analysis. RESULTS: The 5T allele distribution was 0.32, 0.66 for 7T, and 0.02 for 9T in CBAVD males, respectively. In contrast, the 5T allele distribution was 0.03, 0.96 for 7T, and 0.01 for 9T in healthy control. Study of the polymorphisms of the upstream of exon 9 revealed a higher frequency of 5T allele in the CBAVD males. All cases with TG13T5 haplotype and TG12T5 homozygous led to CBAVD. The CFTR TG12T5-V470 variant haplotype was associated with CBAVD. CONCLUSION: The 5T allele of intron 8 of CFTR has clinically significant association with CBAVD. TG13T5 and TG12T5 homozygously led to CBAVD, and TG12T5-V470 may also lead to CBAVD. FAU - Du, Qiang AU - Du Q AD - Department of Reproduction, ShengJing Hospital of China Medical University, Shenyang 110004, China. FAU - Li, Zheng AU - Li Z AD - Department of Urology, RenJi Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China. FAU - Pan, Yongfeng AU - Pan Y AD - Shenyang Institute of Criminal Technology, Shenyang 110004, China. FAU - Liu, Xiaoliang AU - Liu X AD - Department of Clinical Genetics, ShengJing Hospital of China Medical University, Shenyang 110004, China. FAU - Pan, Bochen AU - Pan B AD - Department of Reproduction, ShengJing Hospital of China Medical University, Shenyang 110004, China.