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Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.


ABSTRACT: The human alpha-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical alpha-globin chain. Over half of the alpha-globin structural variants reported to date are only characterized at the amino acid level. It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different alpha-globin gene. There have been very few previous examples of hemoglobin variants that can be found at both HBA1 and HBA2 genes. Here, we report the results of a systematic multicenter study in a large multiethnic population to identify such variants and to analyze their differences from a functional and evolutionary perspective. We identified 14 different Hb variants resulting from identical mutations on either one of the two human alpha-globin paralogue genes. We also showed that the average percentage of hemoglobin variants due to a HBA2 gene mutation (alpha2) is higher than the percentage of hemoglobin variants due to the same HBA1 gene mutation (alpha1) and that the alpha2/alpha1 ratio varied between variants. These alpha-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category.

SUBMITTER: Moradkhani K 

PROVIDER: S-EPMC2690850 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

Moradkhani Kamran K   Préhu Claude C   Old John J   Henderson Shirley S   Balamitsa Vera V   Luo Hong-Yuan HY   Poon Man-Chiu MC   Chui David H K DH   Wajcman Henri H   Patrinos George P GP  

Annals of hematology 20081016 6


The human alpha-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical alpha-globin chain. Over half of the alpha-globin structural variants reported to date are only characterized at the amino acid level. It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different alpha-globin gene. There have been very few previous examples of hemoglobin variants t  ...[more]

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