【摘要】 采用PCR、Southern Blot印迹杂交及细胞遗传学方法,对233名原发性智力低下患儿进行了FMR-1基因的突变分析和Xq27.3脆性位点检查。结果:确诊9名脆性X综合征患者,占3.86％,并在部分家庭成员中检出了女性前突变和全突变携带者,排除细胞学方法假阳性1例。PCR方法简便迅速,成本低,较细胞学方法更具优越性,适于临床普及应用和人群筛查,是遗传咨询中的有效检查手段。更多还原

【Abstract】 The FMR-1 gene mutation and Xq27.3 fragile site among 233 non-specific mentally retarded children were investigated in our genetic counseling department and two special educational schools by PCR, Southern Blot hybridization and cytogenetic methods. Comparison was made among the above methods, and 9 patients were affirmed as fragile X syndrome,making up 3.86% . Female carriers of pre-rnutation and full mutation were recognized among family members, and one false positive result of cytogenetic method was excluded. The PCR procedure has been proved fast,simple and low-cost. It has more advantages over cytogenetic method as an effective diagnosis means,suitable for clinical application and population screening.更多还原