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pubmed-article:3209396pubmed:abstractTextIn screening families for alpha-thalassemia (thal) by the Southern blot technique, several Laotian families were found which had anomalous zeta-globin haplotypes. The zeta-globin genes encode alpha-like embryonic hemoglobin subunits in the alpha-globin multigene complex on chromosome 16. There are normally two zeta-globin genes in this cluster: 5' zeta 2 and 3' psi zeta 1. In our study, six individuals in three families had triple zeta-globin genes. Another family revealed a novel quadruple zeta-globin arrangement. Two aberrant fragments were seen in Eco R1, Bam H1, Bgl II and Hind III digests using a zeta-globin gene probe. These anomalous bands were in the integral 10 kb range consistent with duplication of the zeta-globin region. This haplotype interpretation was confirmed by Southern blot analyses using double digestions hybridized to a cDNA zeta-gene probe, and Pvu II digests probed with a 5'-psi zeta 1 intergenic fragment. Proposed mechanisms of recombination and implications of this novel arrangement are discussed.lld:pubmed
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pubmed-article:3209396pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:3209396pubmed:articleTitleAlpha-thalassemia screening reveals quadruple zeta-globin genes in a Laotian family.lld:pubmed
pubmed-article:3209396pubmed:affiliationDepartment of Genetics, John Burns School of Medicine, University of Hawaii, Honolulu 96822.lld:pubmed
pubmed-article:3209396pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:3209396pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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