Related Experiment Videos
[Study of CFTR gene mutation in Chinese CUAVD patients]
1Department of Urology, the First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, P.R. China. e-green@163.net
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.