Document Detail


Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala].
MedLine Citation:
PMID:  10081986     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hb G-Coushatta [beta22(B4)Glu-->Ala] is found in geographically separated ethnic groups. Commonest along the Silk Road region of China but also present in the North American Coushatta, we sought to determine whether this variant had a unicentric or multicentric origin. We examined the haplotype of the beta-globin gene cluster in two Chinese families and in five Louisiana Coushatta heterozygous for this mutation. Chinese and Louisiana Coushatta had different haplotypes associated with the identical Hb G mutation. These haplotypes were defined by the presence of a HindIII restriction site in the Agamma-globin gene and AvaII restriction site in the beta-globin gene in Chinese subjects and their absence in the Louisiana Coushatta. We found a CAC at codon beta2 (beta-globin gene framework 1 or 2) linked to the Hb G-Coushatta gene in Chinese, and a CAT (framework 3) in Louisiana Coushatta, indicating different beta-globin gene frameworks. Both the Hb G-Coushatta mutation (GAA-->GCA) and the codon 2 CAC-->CAT polymorphism are normal delta-globin gene sequences, suggesting the possibility of gene conversion. We conclude that Hb G-Coushatta had at least two independent origins. This could be due to separate mutations at codon beta22 in Chinese and Louisiana Coushatta, a mutation at this codon and a beta-->delta conversion, or two beta-->delta gene conversion events.
Authors:
J Li; D Wilson; M Plonczynski; A Harrell; C B Cook; W D Scheer; Y T Zeng; M B Coleman; M H Steinberg
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Hemoglobin     Volume:  23     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1999 Feb 
Date Detail:
Created Date:  1999-06-22     Completed Date:  1999-06-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  57-67     Citation Subset:  IM    
Affiliation:
G.V. (Sonny Montgomery) VA Medical Center and Department of Medicine, Jackson, MS 39216, USA.
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MeSH Terms
Descriptor/Qualifier:
China
Female
Globins / genetics
Haplotypes
Hemoglobins, Abnormal / genetics*
Humans
Louisiana
Male
Multigene Family
Mutation
Pedigree
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 9004-22-2/Globins; 9034-70-2/hemoglobin G Coushatta

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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