先天性单侧输精管缺如患者CFTR基因突变研究  

Study of CFTR gene mutation in Chinese CUAVD patients

作　　者：曾国华[1] 梅骅[1] 庄广伦[2] 李满[2] 

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

出　　处：《中华医学遗传学杂志》2000年第4期241-243,共3页Chinese Journal of Medical Genetics

基　　金：广东省博士启动基金!(9940 1 5)

摘　　要：目的　探讨囊性纤维跨膜转运调节物 (cystic fibrosis transmembrane conductance regulator,CFTR)基因在中国人先天性单侧输精管缺如 (congenital unilateral absence of the vas deferens,CUAVD)患者中的突变频率及热点。方法　应用聚合酶链反应 -单链构象多态 (PCR- SSCP)、银染技术及 PCR产物直接序列测定的方法检测了 15例 CUAVD患者 CFTR基因第 2 ,3,4,5 ,6 a,8,10 ,11,12 ,13,15 A,17b,19A,2 0 ,2 1,2 3外显子区域上的突变情况。结果　 1例存在 PCR- SSCP电泳带异常 ,经测序确认了 CFTR突变的性质。它位于 17b号外显子区域 ,其第 32 95个核苷酸由 C颠换成 A(32 95 C→ A) ,形成了 L eu10 5 5 Ile的错义突变。结论　中国人 CUAVD患者存在着 CFTR突变 ,L eu10 5 5 Ile错义突变可能为 1个新的 CFTR基因突变。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.

关 键 词：基因突变 PCR-SSCP 先天性单侧输精管缺如 CFTR 

分 类 号：R394[医药卫生—医学遗传学]