Wang M
Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Beijing.
Zhonghua Yi Xue Za Zhi. 1992 Nov;72(11):670-3, 702-3.
The known mutant alleles of human phenylalanine hydroxylase gene were analyzed in 25 phenylketonuria (PKU) families from North China by polymerase chain reaction combined with allele-specific oligonucleotide dot hybridization techniques. The results showed that the six mutation accounted for 62% of all PKU genes. The three most frequent mutations were Arg243-->Gln in exon 7, Arg413-->Pro in exon 12 and Tyr204-->Cys in exon 6. They accounted for 24%, 18% and 16% respectively of all PKU alleles. The frequencies of Arg111-->Ter mutation in exon 3, Tyr356-->Ter mutation in exon 11 and Trp326-->Ter mutation in exon 10 were somewhat lower in North China. They accounted for 4% of all PKU alleles. Among these 25 PKU families, prenatal gene diagnosis was possible in 10 families. In 11 families, 50% exclusive diagnosis was possible. Prenatal gene diagnosis was performed and confirmed in 2 families.
采用聚合酶链反应结合等位基因特异性寡核苷酸点杂交技术，对来自中国北方的25个苯丙酮尿症（PKU）家系的人苯丙氨酸羟化酶基因突变等位基因进行了分析。结果显示，这6种突变占所有PKU基因的62%。3种最常见的突变分别为第7外显子的Arg243→Gln、第12外显子的Arg413→Pro和第6外显子的Tyr204→Cys。它们分别占所有PKU等位基因的24%、18%和16%。第3外显子的Arg111→Ter突变、第11外显子的Tyr356→Ter突变和第10外显子的Trp326→Ter突变在中国北方的发生率略低。它们占所有PKU等位基因的4%。在这25个PKU家系中，10个家系可进行产前基因诊断。在11个家系中，可进行50%的排他性诊断。对2个家系进行了产前基因诊断并得到证实。
