Van der Ploeg L H, Konings A, Oort M, Roos D, Bernini L, Flavell R A
Nature. 1980 Feb 14;283(5748):637-42. doi: 10.1038/283637a0.
In gamma-beta-thalassaemia, human gamma- and beta-globin gene expression is suppressed; this results in a severe anaemia in newborns which subsequently develops into a beta-thalassaemia syndrome in adult life. This hereditary disease is now shown to be the result of a deletion of at least 40,000 base pairs of the gammadeltabeta-globin gene locus. The gamma- and delta-globin genes are deleted in the affected chromosome but, surprisingly, the beta-globin gene is still present, together with a large segment of the DNA sequences flanking the gene on its 5'-side and the entire region on the 3'-side of the gene. Hence, a deletion of DNA far from the beta-globin gene results in the suppression of its activity.
在γ-β地中海贫血中，人类γ和β珠蛋白基因的表达受到抑制；这导致新生儿出现严重贫血，随后在成年后发展为β地中海贫血综合征。现在表明，这种遗传性疾病是由于γδβ珠蛋白基因座至少40,000个碱基对缺失所致。受影响染色体上的γ和δ珠蛋白基因被删除，但令人惊讶的是，β珠蛋白基因仍然存在，连同该基因5'侧的大片段DNA序列以及基因3'侧的整个区域。因此，远离β珠蛋白基因的DNA缺失导致其活性受到抑制。
