• PMID: 10932005
• Gene Name: CFTR
• Condition: Congenitalunilateral absence of the vas deferens (CUAVD)
• Association: CFTR mutation could be detected in Chinese CUAVD patients. The missense mutation, Leu1055Ile, was identified as a novel CFTRmutation. It is necessary that Chinese CUAVD patients and their wives should be screened for CFTR gene prior to intracytoplasmic sp
• Mutation: Leucine(codon 1055, CTT) to Isoleucine(codon ATT)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenitalunilateral absence of the vas deferens (CUAVD)

[Study of CFTR gene mutation in Chinese CUAVD patients]

Zeng G, Mei H, Zhuang G, Li M.

OBJECTIVE: To analyze the frequency and hot spots of cystic fibrosis transmembrane conductance regulator(CFTR) gene in Chinese congenital unilateral absence of the vas deferens (CUAVD) patients. METHODS: The mutation of CFTR exons 2, 3, 4, 5, 6a, 8, 10, 11, 12, 13, 15A, 17b, 19A, 20, 21, and 23 were detected. PCR-single strand conformation polymorphism(SSCP) and direct sequencing were performed on 15 cases of Chinese CUAVD. RESULTS: One case exhibited an abnormal shift SSCP band in exon 17b of CFTR gene and subsequent DNA sequencing showed C to A transversion at position 3295 that led to a predicted change of Leusine(codon 1055, CTT) to Isoleucine(codon ATT). CONCLUSION: CFTR mutation could be detected in Chinese CUAVD patients. The missense mutation, Leu1055Ile, was identified as a novel CFTR mutation. It is necessary that Chinese CUAVD patients and their wives should be screened for CFTR gene prior to intracytoplasmic sperm injection. FAU - Zeng, G AU - Zeng G AD - Department of Urology, the First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, P.R. China. e-green@163.net FAU - Mei, H AU - Mei H FAU - Zhuang, G AU - Zhuang G