应用PCR-SSCP分析法进行苯丙酮尿症的基因诊断

GENE DIAGNOSLS OF PHENYLKETONURIA BY PCR-SSCP ANALYSIS

应用聚合酶链反应-单链构象多态(PCR-SSCP)分析法检测人苯丙氨酸羟化酶基因第7外显子,在9个苯丙酮尿症家系中发现3例先证者为突变基因纯合子,先证者父母均为突变基因携带者(杂合子)。对1例先证者母亲第二胎取羊水分析,检出胎儿单链构型与突变杂合子父亲一致,证明为突变基因携带者。PCR-SSCP分析法可有效地用于苯丙酮尿症的基因诊断。

The exon 7 of the phenylalanine hydroxylase gene was detected by the single-strand conformation polymorphism analysis of polymerase chain reaction products (PCR-SSCP analysis) in 9 phenylketonuria families. The probands were found to be homologous for the mutant SSCP marker in 3 families. Their parents were heterozygous for the mutant SSCP marker In one family, a fetus at risk was diagnosed by the analysis of the amniotic cells at second trimester. The fetus was a carrier of the mutant allele. This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.