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

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.