The single zeta globin gene rearrangement: hematologic phenotype and its frequent occurrence in Polynesian Niueans.
The single zeta globin gene rearrangement (-zeta/) is an unusual mutation associated with the alpha globin gene cluster on chromosome 16p13.3. It has been detected regularly among West Africans (gene frequency approximately 0.05) and sporadically among other populations. DNA samples from 186 Polynesian Niueans living in Auckland, New Zealand, were studied. Eighteen (gene frequency 0.05) were shown to have the -zeta/gene arrangement, which results from loss of the psi zeta 1 gene. Hematological phenotypes in six cord blood samples and 12 affected adults were normal. The high frequency for -zeta/in Niueans may represent another example of genetic drift and a founder effect in Polynesians or may reflect a different founding population.
Trent
R J
RJ
Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
Yakas
J
J
Rutherford
J
J
Mickleson
K N
KN
D002885:Chromosomes, Human, Pair 16; D005787:Gene Frequency; D015321:Gene Rearrangement; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D009520:New Zealand; D011114:Polynesia / Q000208:ethnology
D005914:Globins