The single ζ globin gene rearrangement: Hematologic phenotype and its frequent occurrence in polynesian niueans | Zendy

Trent R. J. | Zendy; Yakas J. | Zendy; Rutherford J. | Zendy; Mickleson K. N. P. | Zendy

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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

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.

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