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本文分别分析华北地区28个苯丙酮尿症(PKU)家系苯丙氨酸羟化酶(PAH)基因限制酶切片段长度多态性(RFLP),及42个PKU家系PAH基因外显子3(Arg~(111)→终止码)及外显子6(Tyr~(204)→Cys)突变位点。RFLP单体型分析表明,华北地区人群中约77％的正常染色体与79％的PKU突变基因染色体与单体型4相关,同时发现两种新的单体型——单体型49与单体型50;在群体中只有37％的个体为单体型杂合子,并可提供连锁分析所需的信息。应用聚合酶链反应(PCR)及寡核苷酸探针杂交法检测42个PKU家系PAH基因外显子3(Arg~(111)与外显子6(Tyr~(204)的突变位点,结果表明两者分别占华北地区PKU点突变的3.6％与9.5％。
In this paper, the restriction fragment length polymorphism (RFLP) of phenylalanine hydroxylase (PAH) gene in 28 PKU pedigrees and the exon 3 of PAH gene in 42 PKU pedigrees Arg ~ (111) → stop codon) and exon 6 (Tyr ~ (204) → Cys). RFLP haplotype analysis showed that about 77% of the normal chromosomes in North China population were associated with 79% of PKU mutations in haplotype 4 and two new haplotypes 49 and 94 Type 50; only 37% of the individuals in the population are haplotype heterozygotes and provide the information needed for linkage analysis. The mutation sites of exon 3 (Arg ~ (111) and exon 6 (Tyr ~ (204)) in PAH gene of 42 PKU families were detected by polymerase chain reaction (PCR) and oligonucleotide probe hybridization. The results showed that the two accounted for 3.6% and 9.5% of PKU point mutation in North China respectively.