Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.
Of the 645 Japanese subjects studied, we have identified 10 individuals heterozygous for a chromosome with the triplicated alpha-globin loci. The frequency of the triple alpha-loci was 0.008 in this population, while that of the single alpha-locus, i.e., alpha-thalassemia 2 gene, might be lower than 0.0008. Analysis of haplotypes using particular RsaI site polymorphism in the alpha-globin gene complex strongly suggests that the triple alpha loci may have had multiple origins in this population.
Nakashima
H
H
Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
Fujiyama
A
A
Kagiyama
S
S
Imamura
T
T
D005785:Gene Conversion; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007564:Japan; D005810:Multigene Family; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
D005914:Globins