H63D mutation in HFE gene is common in Indians and is associated with the European haplotype

The common C282Y mutation (HFE gene) in hereditary hemochromatosis patients of European origin is absent in Indians. The frequency of the second common missense H63D (187CG) mutation of HFE gene ranges from 9.1-13.9% in the general population. In this study we investigated the haplotypes associated...

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Bibliographic Details
Published in:	Journal of genetics Vol. 91; no. 2; pp. 229 - 232
Main Authors:	DHILLON, BARJINDERJIT KAUR, PRAKASH, SWAMI, CHANDAK, G. R., CHAWLA, Y. K., DAS, REENA
Format:	Journal Article
Language:	English
Published:	India Springer-Verlag 01-08-2012 Springer Nature B.V
Subjects:	Animal Genetics and Genomics Biomedical and Life Sciences Case-Control Studies Europe Evolutionary Biology Genes Genetic Association Studies Genetic disorders Haplotypes Hemochromatosis - genetics Hemochromatosis Protein Histocompatibility Antigens Class I - genetics Humans India Iron Life Sciences Linkage Disequilibrium Lod Score Membrane Proteins - genetics Metabolism Microbial Genetics and Genomics Mutation Mutation, Missense Plant Genetics and Genomics Polymorphism, Single Nucleotide Research Note Sequence Analysis, DNA India haplotype SNP gene H63D
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Summary:	The common C282Y mutation (HFE gene) in hereditary hemochromatosis patients of European origin is absent in Indians. The frequency of the second common missense H63D (187CG) mutation of HFE gene ranges from 9.1-13.9% in the general population. In this study we investigated the haplotypes associated with H63D mutation in north Indians.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-1333 0973-7731
DOI:	10.1007/s12041-012-0163-5