摘要
采用快速毛细管ＰＣＲ非同位素检测及Ｓｏｕｔｈｅｒｎ印迹杂交技术，对３个脆性Ｘ综合征家系１８名成员进行了基因型鉴定，其检出全突变患者４例，前突变女性携带者４例及正常男性传递者（ＮＴＭｓ）２例，结果显示直接基因诊断方法较细胞遗传学检查更灵敏，对３个家系进行系谱分析证实其遗传特点符合Ｓｈｅｒｍａｎ推论及Ｓｍｉｔｈｓ的观察，同时提供了一种更加快速筛查脆性Ｘ综合征的非同位素ＰＣＲ诊断方法。
The direct molecular diagnosis of fragile X syndrome in 3 families was performed by using rapid non-radioactive PCR detection and southern blot hybridization technique.Out of 18 members,4probands with full mutation,and 4 mothers carriers with premutation and 2 normal transmitted males(NTMs)were identified.The results showed that the method of direct molecular diagnosis was more sensitive than the technique of cytogenetics for fragile X syndroem,Linkage analysis of the 3 families revealed that the features of heredity were consistent with Sherman’s Paradox and the observation of Smith.In this study we have set up a new,rapid and non-radioactive PCR detection method for screening fragile X syndrome.
出处
《中国优生与遗传杂志》
1996年第6期12-15,37,共5页
Chinese Journal of Birth Health & Heredity
基金
湖北省自然科学基金
关键词
脆性X综合征
家系
基因诊断
Fragile X syndrome,Rapid PCR,Southern blots
