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Phenylketonuria mutations in Germany.

Abstract：

:We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. The most common mutation was R408W on 22% of alleles. Two mutations, IVS12+1G-->A and IVS10-11G-->A accounted for just under 10% of alleles, whereas the remaining mutations were found at relative frequencies of 6% or less; 43 mutations were observed once only. IVS10-11G-->A was the most common mutation (38% of alleles) in the subgroup of patients of Turkish descent. Modified haplotypes were determined from the analysis of four silent mutations, three diallelic restriction fragment length polymorphisms, a variable number of tandem repeats minisatellite and a short tandem repeat microsatellite in the phenylalanine hydroxylase gene, showing that a considerable proportion of mutations must have recurred in independent founders; other mutations may have changed chromosomal haplotype backgrounds by gene conversion. The spectrum of PKU mutations in Germany reflects the history of a heterogenous Central European population living at the crossroads of migration throughout the centuries.

journal_name

Hum Genet

journal_title

Human genetics

authors

Zschocke J,Hoffmann GF

doi

10.1007/s004390050973

keywords:

subject

Has Abstract

pub_date

1999-05-01 00:00:00

pages

390-8

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

104

pub_type

杂志文章

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