| Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala]. | |
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MedLine Citation:
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PMID: 10081986 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Hemoglobin Volume: 23 ISSN: 0363-0269 ISO Abbreviation: Hemoglobin Publication Date: 1999 Feb |
Date Detail:
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Created Date: 1999-06-22 Completed Date: 1999-06-22 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7705865 Medline TA: Hemoglobin Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 57-67 Citation Subset: IM |
Affiliation:
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G.V. (Sonny Montgomery) VA Medical Center and Department of Medicine, Jackson, MS 39216, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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China Female Globins / genetics Haplotypes Hemoglobins, Abnormal / genetics* Humans Louisiana Male Multigene Family Mutation Pedigree |
| Chemical | |
Reg. No./Substance:
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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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