Triplicated alpha-globin gene loci in a Chinese family.
Utilizing restriction endonuclease mapping and blot hybridization, we have determined the arrangement of the alpha-globin genes in a Chinese family. The father and mother had no obvious alpha-thalassemia symptoms, but their twin daughters suffered from HbH disease. The gene analysis showed that the mother had three alpha-globin genes in one chromosome and no alpha-globin gene in the other (alpha alpha alpha/--), the father was a heterozygote of alpha-thal2 (alpha alpha/-alpha). Their twin daughters were double heterozygotes of alpha-thall and the rightward deletion genotype alpha-tha12 (--/-alpha).
D000328:Adult; D002681:China; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D003434:Crossing Over, Genetic; D004200:Diseases in Twins; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D005914:Globins