PHENYLKETONURIA IN A LOW INCIDENCE POPULATION - MOLECULAR CHARACTERIZATION OF MUTATIONS IN FINLAND

被引：43

作者：

GULDBERG, P

HENRIKSEN, KF

SIPILA, I

GUTTLER, F

DELACHAPELLE, A

机构：

[1] UNIV HELSINKI,DEPT MED GENET,SF-00014 HELSINKI,FINLAND

[2] JOHN F KENNEDY INST,DANISH CTR HUMAN GENOME RES,DK-2600 GLOSTRUP,DENMARK

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 12期

关键词：

D O I：

10.1136/jmg.32.12.976

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7ntl, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pronounced negative founder effect as the cause of the low incidence of PKU in Finland, and are consistent with existing data regarding the European and Baltic origin of Finnish genes.

引用

页码：976 / 978

页数：3

共 24 条

[1]

ABRAMS ES, 1992, METHOD ENZYMOL, V212, P71

[2]

BICKEL H, 1981, EUR J PEDIATR, V137, P133

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