Screening Mutation Of CFTR Gene In Man With Congennital Bilateral Absence Of Vas Deferens

Objective: In order to provide information of preimplantation genetic diagnosis(PGD)to patients who are going to take intrcyplasmic sperm injection(ICSI) ,we investigatethe mutation of cystic fibersis transmenbrane conductance regular factor(CFTR) inChinese with Congennital Bilateral Absence of Vas Deferens(CBAVD).Methods: PCR-single strand conformation polymorphism (PCR-SSCP) was appliedto screen the mutation of 2,3,7A,13A,14A,19B exon in CFTR gene of 25 patients withCBAVD.Results: Changes were not found in six exons in CFTR gene of 25 patients withCBAVD, and any mutation was not found in 2,3,7A,13A,14A,19B exon in CFTR geneof these patients.Conclusions: Although the CBAVD rate in Chinese is insistent with report in aboard,the mutation rate and locus in CFTR gene may be great different with population ofEuropean. The detection frequency of mutation of CFTR gene in Chinese was lowerthan in those Europeans. We are attracted by 5 thymines(5T) of intron 8 which arethe further research focus. Meanwhile, during the development of CBAVD, in additionto mutation of CFTR gene ,genetic factors and environmental factors may also playimportant roles. ISCI give wishes to patients with CBAVD ,It is not sure thatnecessity of Chinese CBAVD patients do PGD.