一名印度δβ地中海贫血患者的DNA缺失始于距Aγ珠蛋白基因1千碱基处，并在一个L1重复序列处终止。

The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence.

作者信息

Mishima N, Landman H, Huisman T H, Gilman J G

机构信息

Department of Cell and Molecular Biology, Medical College of Georgia, Augusta.

出版信息

Br J Haematol. 1989 Nov;73(3):375-9. doi: 10.1111/j.1365-2141.1989.tb07756.x.

DOI:10.1111/j.1365-2141.1989.tb07756.x

PMID:2605124

Abstract

High fetal haemoglobin levels of 5-15% are present in adult heterozygotes for delta beta-thalassaemia as the result of large deletions of DNA. We have cloned DNA spanning the deletion breakpoint for a new Indian delta beta-thalassaemia associated with mild anaemia. The 5' breakpoint is at 42151 of GenBank file HUMHBB, which is about 1 kb 3' of the A gamma globin gene poly A site at 41003. On the 3' side of the breakpoint, the sequence is homologous to L1 (KpnI) repetitive DNA located 3.6-10 kb 3' of the beta-globin gene: Indian delta beta-thalassaemia DNA is 74% homologous to the inverted complement of HUMHBB from 69849 to 70020, followed by a region 78% homologous to the direct sequence of HUMHBB from 70534 to 71010. The precise location of the 3' endpoint of this deletion has not been determined, but it is within L1 sequences located more than 10 kb 3' of the beta-globin gene.

摘要

由于DNA的大片段缺失，成人δβ地中海贫血杂合子中存在5%-15%的高胎儿血红蛋白水平。我们克隆了与轻度贫血相关的一种新的印度δβ地中海贫血的缺失断点处的DNA。5'断点位于GenBank文件HUMHBB的42151处，在41003处的Aγ珠蛋白基因多聚腺苷酸位点下游约1 kb处。在断点的3'侧，该序列与位于β珠蛋白基因下游3.6-10 kb处的L1（KpnI）重复DNA同源：印度δβ地中海贫血DNA与HUMHBB从69849到70020的反向互补序列有74%的同源性，随后是一个与HUMHBB从70534到71010的直接序列有78%同源性的区域。该缺失的3'端点的确切位置尚未确定，但它位于β珠蛋白基因下游超过10 kb的L1序列内。