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.
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.
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印度 δ β 地中海贫血中的 DNA 缺失从 A γ 珠蛋白基因 1 KB 处开始，以 L1 重复序列结束。
DOI：
10.1111/j.1365-2141.1989.tb07756.x
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发表时间：
1989
影响因子：
6.5
通讯作者：
Gilman,JG
中科院分区：
文献类型：
--
作者：
Mishima,N;Landman,H;Huisman,TH;Gilman,JG
由于DNA的大量缺失，δβ -地中海贫血的成人杂合子中存在5-15%的高胎儿血红蛋白水平。我们克隆了一种新的印度δβ -地中海贫血与轻度贫血相关的DNA，该DNA跨越了缺失断点。5 ‘断点位于GenBank文件HUMHBB的42151处，约为1 kb 3 ’，位于γ球蛋白基因poly A位点41003处。在断裂点3′侧，该序列与位于β -珠蛋白基因3.6-10 kb 3′的LI （KpnI）重复DNA同源；印度δβ -地中海贫血DNA与HUMHBB的69849 ~ 70020的倒补体同源性为74%，其次是与HUMHBB的70534 ~ 71010的直接序列同源性为78%。这种缺失的3 ‘末端的精确位置尚未确定，但它位于β -珠蛋白基因超过10 kb 3 ’的LI序列内。
High fetal haemoglobin levels of 5–15% are present in adult heterozygotes for δβ‐thalassaemia as the result of large deletions of DNA. We have cloned DNA spanning the deletion breakpoint for a new Indian δβ‐thalassaemia associated with mild anaemia. The 5’ breakpoint is at 42151 of GenBank file HUMHBB, which is about 1 kb 3’ of theAγ globin gene poly A site at 41003. On the 3’ side of the breakpoint, the sequence is homologous to LI (KpnI) repetitive DNA located 3.6–10 kb 3’ of the β‐globin gene: Indian δβ‐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 LI sequences located more than 10 kb 3’ of the β‐globin gene.