[新西伯利亚地区苯丙酮尿症患者苯丙氨酸羟化酶外显子7结构中的突变]

[Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].

作者信息

Smagulova F O, Maslennikov A B, Morozov I V, Kitaĭnik G P

机构信息

Novosibirsk Institute of Bioorganic Chemistry, Russian Academy of Sciences, Novosibirsk, Russia.

出版信息

Genetika. 2000 Jun;36(6):849-52.

PMID:10923269

Abstract

The spectrum and frequency of mutations of exon 7 of the gene for phenylalanine hydroxylase (PAH) were studied in 34 phenylketonuria (PKU) patients living in Novosibirsk oblast. The five most prevalent mutations constituted 17.64% of defective alleles: R243Q (1.47%), R252W (1.47%), R261Q (5.88%), E280K (1.47%), and P281L (7.35%). A neutral polymorphic locus V245V was found within exon 7.

摘要

对居住在新西伯利亚州的34名苯丙酮尿症（PKU）患者的苯丙氨酸羟化酶（PAH）基因第7外显子的突变谱和频率进行了研究。五种最常见的突变占缺陷等位基因的17.64%：R243Q（1.47%）、R252W（1.47%）、R261Q（5.88%）、E280K（1.47%）和P281L（7.35%）。在第7外显子内发现了一个中性多态性位点V245V。