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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 rare fragile sites A and E (FRAXA and FRAXE) at the long arm of X chromosome were caused by the extension of a heritable trinucleotide repeat [P (CGG) _n and P (GCC) _n], respectively. Site in the level of cytogenetics is difficult to distinguish.In order to establish a rapid screening of FRAXA and FRAXE locus gene diagnosis, this paper uses capillary PCR-sequence gel silver staining display of normal people, Fragile X syndrome pedigrees and mental retardation children three The results showed that P (CGG) _n and P (GCC) _n in normal population showed polymorphic distribution and could be inherited according to Mendelian law. Small pre-mutation carriers could be detected by this method to establish A rapid, simple, cheap, safe and accurate genetic screening method, the method can be used for dynamic mutation disease population census.