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The single ζ globin gene rearrangement: Hematologic phenotype and its frequent occurrence in polynesian niueans
Author(s) -
Trent R. J.,
Yakas J.,
Rutherford J.,
Mickleson K. N. P.
Publication year - 1991
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830380409
Subject(s) - phenotype , gene , genetics , biology , globin , population , gene cluster , medicine , environmental health
Abstract The single ζ globin gene rearrangement (−ζ/) is an unusual mutation associated with the α globin gene cluster on chromosome 16p13.3. It has been detected regularly among West Africans (gene frequency ˜0.05) and sporadically among other populations. DMA samples from 186 Polynesian Niueans living in Auckland, New Zealand, were studied. Eighteen (gene frequency 0.05) were shown to have the −ζ/ gene rearrangement, which results from loss of the Ψζ1 gene. Hematological phenotypes in six cord blood samples and 12 affected adults were normal. The high frequency for −ζ/ in Niueans may represent another example of genetic drift and a founder effect in Polynesians or may reflect a different founding population.