Huang S, Fang B, Chu H
Department of Medical Genetics, PUMC, Beijing.
Zhonghua Yi Xue Za Zhi. 1995 Jan;75(1):22-4, 61.
There is a polymorphic tetranucleotide short tandem repeats (STR) sequence in the intron 3 of the phenylalanine hydroxylase (PAH) gene. The polymorphism of this STR sequence in Chinese was analysed on 36 normal individuals and 16 PKU families. After PCR amplification, the DNA fragments were separated on polyacrylamide sequencing gel and visualized by silver-staining. Seven alleles were identified with frequencies of 0.028, 0.042, 0.014, 0.138, 0.542, 0.208 and 0.028 in normal populations, and 0.016, 0.078, 0.047, 0.312, 0.375, 0.156 and 0.016 in PKU families, and PICs of 0.585 and 0.693, respectively. This polymorphic marker is very useful in quick prenatal gene diagnosis in PKU families, and prenatal gene diagnosis was performed by linkage analysis in two pregnancies at risk.
苯丙氨酸羟化酶（PAH）基因第3内含子中有一个多态性四核苷酸短串联重复序列（STR）。对36名正常个体和16个苯丙酮尿症（PKU）家系分析了该STR序列在中国人群中的多态性。经聚合酶链反应（PCR）扩增后，DNA片段在聚丙烯酰胺测序凝胶上分离，并用银染法显色。在正常人群中鉴定出7个等位基因，频率分别为0.028、0.042、0.014、0.138、0.542、0.208和0.028；在PKU家系中，等位基因频率分别为0.016、0.078、0.047、0.312、0.375、0.156和0.016，多态信息含量（PIC）分别为0.585和0.693。该多态性标记在PKU家系快速产前基因诊断中非常有用，并通过连锁分析对2例有风险的妊娠进行了产前基因诊断。
