首次发现国人先天性双侧输精管缺如CFTR基因突变  

The first identification mutations of cystic fibrosis transmembrane conductance regulator gene in Chinese patients with congenital bilateral absence of vas deferens

作　　者：曾国华[1] 邓春华[1] 林正[2] 邓文国 庄广伦[1] 李满[3] 

机构地区：[1]中山医科大学附属第一医院泌尿外科,510080 [2]中山医科大学附属第一医院达安基因中心,510080 [3]中山医科大学附属第一医院生殖中心,510080

出　　处：《新医学》2000年第1期17-18,共2页Journal of New Medicine

基　　金：博士后启动基金

摘　　要：目的：探讨囊性纤维化跨膜转运调节物（ＣＦＴＲ）基因在国人先天性双侧输精管缺如患者中的突变频率及热点。方法：应用 ＰＣＲ－单链构象多态（ＰＣＲ－ＳＳＣＰ）及 ＤＮＡ测序技术，对 ３２例先天。生双侧输精管缺如 患者ＣＦＴＲ基因第２，３，４，５，６ａ，８，１０，１１，１２，１３，１５Ａ，１７ｂ，１９Ａ，２０，２１，２３外显子区域上的突变进行筛查。结果：１例患者在１０号外显子第１６５３至１６５５位三个碱基ＴＴＴ缺失，导致肽链第５０８位苯丙氨酸缺失（△Ｆ５０８）。另 １例在 ２号外显子第 ２２５位一个碱基 Ｃ缺失（ ２２５ｄｅｌＣ）。结论： ２２５ｄｅｌＣ为国内未报道过的新型移码突变。故先天性双侧输精管缺如患者在行单精子卵浆内注射前，夫妻双方进行ＣＦＴＲ突变基因筛查是十分必要的。Objective: To analyze the frequency and hot spots of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Chinese patients with congenital bilateral absence of vas deferens (CBAVD). Methods: Exons 2, 3, 4, 5, 6a, 8, 10, 11, 12, 13, 15A, 17b, 19A, 20, 21 and 23 of CFTR gene were analyzed in 32 CBAVD patients by using PCR--single strand conformation polymorphism (SSCP) and direct sequencing. Results: One patient exhibited an abnormal band on SSCP for exon 10 of the CFTR gene and subsequent DNA sequencing showed a 3hp deletion at position 1653~1655 that caused the deletion of a single amino acid, phenyalanine, in codon 508, F508. Another patient was detected a shift mutation in exon 2, a 1bp deletion at position 225, 225delC. Conclusion: F508, being the most frequent mutation in white cystic fibrosis patients, was detected in this study. 225delC was identified as a novel shift mutation. It is necessary that CBAVD patients and their wives should be screened for CFTR gene prior to intracytoplasmic sperm injection (ICSI).

关 键 词：输精管畸形 双侧输精管缺如 CFTR基因 

分 类 号：R697.25[医药卫生—泌尿科学]