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Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.
Y Y Chifu, H H Nakashima, H H Hara, E E Yokota and T T Imamura
Hum Genet 89(3):343-6 (1992)
PMID 1351038
We describe in a Japanese family beta zero-thalassemia resulting from a compound heterozygosity for a beta-globin gene mutation. One mutation is a C-to-T transition at IVS-2 nucleotide position 654 on the background of Mediterranean haplotype IX. Another mutation is a G-to-A transition at IVS-2 nucleotide position 1, associated with a novel haplotype XI. The occurrence of these mutations on various chromosomal backgrounds provides strong evidence for an interplay of gene migration, interallelic gene conversion, and multiple origins of the same mutation.
DOI:
Version: za2963e q8za5 q8zb5 q8zca q8zd1 q8zee q8zf7 q8zg6
DOI:
Version: za2963e q8za5 q8zb5 q8zca q8zd1 q8zee q8zf7 q8zg6