Document Detail

Population genetics of phenylketonuria.
MedLine Citation:
PMID:  7766949     Owner:  NLM     Status:  MEDLINE    
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a large number of mutations at the phenylalanine hydroxylase (PAH) locus, most of which are strongly associated with specific RFLP or VNTR haplotypes. One of the major questions remaining in PKU research is why this apparently maladaptive disorder has been maintained at a frequency of approximately 1 in 10,000 among Caucasians. A growing number of studies have provided evidence that both the relatively high frequency of PKU and the strong mutation/haplotype associations might reflect the existence of multiple founding populations for PKU. Examples of putative founding populations for PKU in both Europe and Asia will be presented. Some PAH mutations are associated with multiple haplotypes, suggesting recurrence. Evidence for and against recurrence as the mechanism responsible for the association of the R408W mutation with RFLP haplotypes 1 and 2 will be discussed.
R C Eisensmith; S L Woo
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992). Supplement     Volume:  407     ISSN:  0803-5326     ISO Abbreviation:  Acta Paediatr Suppl     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1995-07-06     Completed Date:  1995-07-06     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9315043     Medline TA:  Acta Paediatr Suppl     Country:  NORWAY    
Other Details:
Languages:  eng     Pagination:  19-26     Citation Subset:  IM    
Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA.
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MeSH Terms
Asia / epidemiology
Europe / epidemiology
Founder Effect*
Gene Frequency / genetics*
Haplotypes / genetics
Molecular Epidemiology
Mutation / genetics*
Phenylketonurias / epidemiology*,  genetics*

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