云南苯丙氨酸羟化酶基因内(TCTA)_n多态性及其在苯丙酮尿症诊断中的应用  

Application of (TCTA)n polymorphism in PAH gene in PKU prenatal diagnosis in Yunnan

作　　者：朱月春[1] 汪宁[1] 邱志明[1] 徐葵[1] 

机构地区：[1]昆明医学院生化教研室

出　　处：《中华儿科杂志》1999年第5期277-279,共3页Chinese Journal of Pediatrics

基　　金：云南省应用基础研究基金

摘　　要：目的应用苯丙氨酸羟化酶（ＰＡＨ）基因内（ＴＣＴＡ）ｎ多态性连锁分析进行经典型苯丙酮尿症（ＰＫＵ）的基因诊断和产前诊断。方法应用聚合酶链反应扩增片段长度多态性（ＰＣＲＡｍｐＦＬＰ）方法，分析云南省１３个家系苯丙氨酸羟化酶（ＰＡＨ）基因内（ＴＣＴＡ）ｎ多态性。结果在１３个家系中检测到２２４～２５２ｂｐ的８种等位片段，其ＰＩＣ为０．６９８，杂合频率是５１％。可诊断率为１００％和５０％的家系各６个，１个家系因双亲带型为纯合型而未能诊断，可诊断率为６９％。完成１例产前基因诊断和２例回顾性的基因诊断。结论（ＴＣＴＡ）ｎ的ＰＣＲＡｍｐＦＬＰ分析可作为经典型ＰＫＵ基因诊断和产前诊断的一种简便有效的方法。Objective To evaluate applicability of (TCTA)n polymorphism analysis in PAH gene in classical PKU prenatal diagnosis. Methods (TCTA)n polymorphism was analysed in 13 PKU families in Yunnan province by PCRAmpFLP. Results Eight alleles (224252 bp) of (TCTA)n were identified, and PIC and degree of heterozygosity were 0.698 and 51%, respectively. Six families had a diagnosis rate of 100% and another 6 had a diagnosis rate of 50%. In one family the diagnosis could not be made because the parents carried homozygote. The rate of diagnosis that could be made was 69%. The prenatal diagnosis was made in one fetus and in two cases a retrospective gene diagnosis was made. Conclusion (TCTA)n AmpFLP is an effective, simple and widely applicable PKU gene diagnosis method.

关 键 词：苯丙酮尿症 RCR 苯丙氨酸羟化酶 产前诊断 

分 类 号：R589.304[医药卫生—内分泌]