Huang S, Miao S, Xu L, Fang B, Liu G, Luo H
Department of Medical Genetics, PUMC and CAMS, Beijing.
Yi Chuan Xue Bao. 1996;23(3):169-73.
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 polymorphic sits.
在苯丙氨酸羟化酶基因IVS3受体位点上游第11个核苷酸处发现了一个A/C多态性。通过单链构象多态性分析可轻松检测到这种多态性。在中国人群中，主要等位基因（A）的频率为0.656，次要等位基因（C）的频率为0.344，多态信息含量（PIC）为0.351。该位点与位于该基因同一内含子上游的STR多态性位点之间不存在连锁不平衡。利用这两个多态性位点进行单倍型连锁分析，估计苯丙酮尿症产前基因诊断的效率为78.1%。
