PAH基因内一个A／C多态性位点的分析  

Analysis of the A/C Polymorphic Site within the Phenylalanine Hydroxylase Gene

作　　者：黄尚志[1] 李辉[1] 苗世荣 徐陆亭[1] 方炳良[1] 刘国仰[1] 罗会元[1] 

机构地区：[1]中国医学科学院基础医学研究所,中国协和医科大学基础医学院,北京医学遗传研究室

出　　处：《Acta Genetica Sinica》1996年第3期169-173,共5页

基　　金：国家"8.5"攻关项目;美国CMB基金

摘　　要：在苯丙氨酸羟化酶基因ＩＶＳ３的３＇端－１１位有一个Ａ／Ｃ多态性位点，应用ＳＳＣＰ分析可进行简便检测。Ａ等位基因的频率为０．６５６，Ｃ等位基因的频率为０．３４４，此位点的多态性信息含量（ＰＩＣ）为０．３５１。Ａ／Ｃ位点与同一内含子中的ＳＴＲ位点间没有连锁不平衡性，联合应用这两个多态性位点进行单体型连锁分析，对ＰＫＵ家系进行产前基因诊断的诊断率可达７５％。An A/C polymorphism was identified at nucleotide-11 from the acceptor site of IVS3 of the phenylalanine hydroxylase gene.This polymorphism can be detected easily by means of single strand conformation polymorphism analysis.The frequency for the majior allele(A)was 0.656 and 0.344 for the minor allele(C)with the PIC being 0.351 in Chinese population.There was no linkage disequilibrium between this site and the STR polymorphic site located upstream within the same intron of the gene.The ejjicincy of prenatal gene diagnosis fro PKU was estimated to be 78.1% by haplotype linkage analysis using these two polymopohic sits.

关 键 词：苯丙酮尿症 遗传病 多态性位点 苯丙氨酸羟化酶 

分 类 号：R596.102[医药卫生—内科学]