立陶宛苯丙酮尿症患者中苯丙氨酸羟化酶突变和单倍型的分布情况。

Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.

作者信息

Kucinskas V, Jurgelevicius V, Cimbalistiene L, Holmgren G

机构信息

Human Genetics Center, Vilnius University, Lithuania.

出版信息

Hum Hered. 1994 Mar-Apr;44(2):110-3. doi: 10.1159/000154200.

DOI:10.1159/000154200

PMID:8188310

Abstract

The distribution of phenylketonuria (PKU) mutations and haplotypes was studied in a sample of 50 families with at least one PKU child detected through the Lithuanian neonatal screening program from 1975 to 1992. Mutations were identified on 84 of the 100 alleles. Three mutations (R408W, R158Q, R261Q) together accounted for 78% of all chromosomes studied. The mutations IVS12nt1, IVS10nt546, 6272X, Q232Q were very rare. Nine different DNA haplotypes based on restriction fragment length polymorphisms at the phenylalanine hydroxylase locus were observed. The frequency of the mutant R408W is one of the highest in Europe. Most of the PKU patients were compound heterozygotes, and 47% were homozygotes for the mutations identified in this series.

摘要

在1975年至1992年通过立陶宛新生儿筛查项目检测出至少有一名苯丙酮尿症（PKU）患儿的50个家庭样本中，研究了PKU突变和单倍型的分布情况。在100个等位基因中的84个上鉴定出了突变。三个突变（R408W、R158Q、R261Q）共同占所研究所有染色体的78%。IVS12nt1、IVS10nt546、6272X、Q232Q这些突变非常罕见。观察到基于苯丙氨酸羟化酶基因座限制性片段长度多态性的九种不同DNA单倍型。突变型R408W的频率是欧洲最高的之一。大多数PKU患者是复合杂合子，47%是本系列中鉴定出的突变的纯合子。