低发病率人群中的苯丙酮尿症：芬兰突变的分子特征分析
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
作者信息
Guldberg P, Henriksen K F, Sipilä I, Güttler F, de la Chapelle A
机构信息
Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.
出版信息
J Med Genet. 1995 Dec;32(12):976-8. doi: 10.1136/jmg.32.12.976.
Abstract
The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, 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.
摘要
芬兰苯丙酮尿症（PKU）的发病率极低，可能低于十万分之一。我们描述了目前已知的所有4例患者的突变和单倍型。在4条突变染色体上发现了R408W突变（均为单倍型2），IVS7nt1、R261Q和IVS2nt1分别在1条染色体上被发现。其余染色体未发现突变。这些发现支持了显著的负奠基者效应是芬兰PKU低发病率的原因，并且与关于芬兰基因起源于欧洲和波罗的海地区的现有数据一致。
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