FRAXA与FRAXE位点的快速基因筛查  

A rapid method of gene screening on FRAXA and FRAXE sites.

作　　者：金润铭[1] 杨爱德[1] 费洪宝[1] 何美娟[1] 王申五[2] 杨晓林[2] 

机构地区：[1]同济医科大学附属协和医院儿料,武汉430022 [2]北京医科大学人民医院中心实验室,100044

出　　处：《中国优生与遗传杂志》1996年第5期8-10,共3页Chinese Journal of Birth Health & Heredity

摘　　要：X染色体长臂末端罕见脆性位点A与E(FRAXA与FRAXE)分别由一个可遗传的三核苷酸重复序列[P(CGG)_n与P(GCC)_n]的延长所致,二种脆性位点在细胞遗传学水平难以区别.为了建立快速筛查FRAXA与FRAXE位点的基因诊断法,本文采用毛细管PCR-序列胶银染显示法对正常人、脆性X综合征家系及智力低下儿童三组样本进行了检测,结果显示正常人群的P(CGG)_n与P(GCC)_n均呈多态分布且按孟德尔规律稳定遗传,较小前突变携带者均可由本方法检出,从而建立了一种快速、简便、价廉、安全、准确的基因筛查法,该方法可用于动态突变性疾病的群体普查.The fragile sites, FRAXA and FRAXE, which are located at the end of the long arm of X chromosome, are resulted from the expansion of a trinucleotide repeat sequence, P(CGG)n and P (GCC)n. It if difficult to distinguish FRAXA from FRAXE at the cytogenetic level. To establish a rapid detection method for the molecular diagnosis of FRAXA and FRAXE sites, we used rapid PCR with silver sequence gel stainning to detect three groups of samples from normal individuals, fragile X families and children with mental retardation. The results demonstrated that the P(CGG)n and P (GCC)n were polymorphic in normal persons and were inherited stably according to the Mendilian rule under normal conditions. The carriers of smaller premutation alleles could be detected by the above method. In this study we have set up a rapid, simple, cheap, safe and exact method for gene screening. This method could be used as the population screening of dynamic DNA mutation diseases.

关 键 词：脆性X综合征 脆性X-E位点 基因诊断 

分 类 号：R596.104[医药卫生—内科学] R446.9[医药卫生—临床医学]