Document Detail

Low-density lipoprotein-receptor gene haplotypes in Afrikaans-speaking patients with homozygous familial hypercholesterolaemia. Further evidence in support of a founder gene.
MedLine Citation:
PMID:  3824088     Owner:  NLM     Status:  MEDLINE    
Pvu II and Stu I restriction fragment length polymorphisms of the low-density lipoprotein-receptor gene were used for receptor allele haplotype analysis in 6 unrelated white Afrikaans-speaking subjects with homozygous familial hypercholesterolaemia (FH). Five patients were homozygous for P-S+, one of four possible haplotypes, and 1 patient showed compound heterozygosity for P-S+ and P+S-. The haplotype distribution in these patients differed from the calculated distribution in the general Afrikaner population at the 5-10% level of significance. These data support the founder gene hypothesis advanced to account for the high frequency of FH in the Afrikaans population. Four non-Afrikaner homozygous FH patients, also investigated in this study, manifested a variety of haplotypes in conformity with the heterogeneity underlying FH reported by others.
H E Henderson; S V Landon; G M Berger
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde     Volume:  71     ISSN:  0256-9574     ISO Abbreviation:  S. Afr. Med. J.     Publication Date:  1987 Feb 
Date Detail:
Created Date:  1987-03-30     Completed Date:  1987-03-30     Revised Date:  2014-09-12    
Medline Journal Info:
Nlm Unique ID:  0404520     Medline TA:  S Afr Med J     Country:  SOUTH AFRICA    
Other Details:
Languages:  eng     Pagination:  218-20     Citation Subset:  IM    
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MeSH Terms
African Continental Ancestry Group
Child, Preschool
European Continental Ancestry Group
Hyperlipoproteinemia Type II / genetics*
Receptors, LDL / genetics*
South Africa
Reg. No./Substance:
0/Receptors, LDL

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