Smagulova F O, Morozov I V
Novosibirsk Institute of Bioorganic Chemistry, Russian Academy of Sciences, Novosibirsk, 630090 Russia.
Genetika. 2000 Dec;36(12):1716-8.
A previously unknown sequence of the human phenylalanine hydroxylase (PAH) gene intron 7 (GeneBank AN AF204239) has been reported. Screening of the group of phenylketonuria patients from Nobosibirsk region for polymorphic sites within intron 7 revealed single nucleotide substitutions at intron positions 332, 451, 574 and 791. Polymorphic site at intron position 791 corresponds to one of the eight restriction sites (MspI) utilized for haplotype construction. Analysis of the MspI allele frequencies in 29 phenylketonuria patients showed that the frequency of the MspI+ allele in this group was 79.4%. Polymorphic sites at nucleotide position +97 from the beginning of intron 10, and at nucleotide position -54 from the end of intron 5, were also described. The polymorphic sites revealed can be used as markers for identification of the PAH alleles in population genetic studies, and also serve for diagnostics of phenylketonuria (PKU). The presence of numerous nucleotide substitutions within the intronic sequences confirms highly polymorphic structure of the PAH gene.
据报道，人类苯丙氨酸羟化酶（PAH）基因内含子7存在一个此前未知的序列（基因库编号AF204239）。对新西伯利亚地区苯丙酮尿症患者群体进行内含子7内多态性位点筛查，发现内含子位置332、451、574和791处存在单核苷酸替换。内含子位置791处的多态性位点对应于用于单倍型构建的八个限制性位点（MspI）之一。对29例苯丙酮尿症患者的MspI等位基因频率分析表明，该群体中MspI +等位基因的频率为79.4%。还描述了内含子10起始处核苷酸位置+97以及内含子5末端核苷酸位置-54处的多态性位点。所发现的多态性位点可作为群体遗传学研究中PAH等位基因鉴定的标记，也可用于苯丙酮尿症（PKU）的诊断。内含子序列中存在大量核苷酸替换，证实了PAH基因具有高度多态性结构。
