EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS

被引：32

作者：

BYCK, S

MORGAN, K

TYFIELD, L

DWORNICZAK, B

SCRIVER, CR

机构：

[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,DEBELLE LAB BIOCHEM GENET,MONTREAL H3H 1P3,PQ,CANADA

[2] MCGILL UNIV,DEPT HUMAN GENET,MONTREAL,PQ,CANADA

[3] MCGILL UNIV,DEPT EPIDEMIOL & BIOSTAT,MONTREAL,PQ,CANADA

[4] MCGILL UNIV,DEPT PEDIAT,MONTREAL H3A 2T5,PQ,CANADA

[5] MCGILL UNIV,DEPT MED,MONTREAL,PQ,CANADA

[6] SOUTHMEAD GEN HOSP,BRISTOL,AVON,ENGLAND

[7] INST HUMAN GENET & ANTHROPOL,MUNSTER,GERMANY

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 09期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/3.9.1675

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on haplotypes 2.3 and 1.8 in Europeans. The mutation involves a CpG dinucleotide; nonetheless, a single recombination event might also explain the two haplotype associations. By analysis of an STR in the PAH gene 5' to the 408 codon and of the VNTR system in the 3' UTR, we identified unique features of the haplotype 1.8 chromosome harbouring the R408W mutation which are not accounted for by recombination. We conclude that recurrent mutation is the origin of R408W on different PAH haplotypes in Europeans.

引用

页码：1675 / 1677

页数：3

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