γδβ地中海贫血1型和2型是人类β珠蛋白基因簇中100千碱基对缺失的结果。
Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster.
作者信息
Taramelli R, Kioussis D, Vanin E, Bartram K, Groffen J, Hurst J, Grosveld F G
出版信息
Nucleic Acids Res. 1986 Sep 11;14(17):7017-29. doi: 10.1093/nar/14.17.7017.
Abstract
The DNA spanning two large deletions in the human beta-globin gene cluster (gamma beta-thalassaemia 1 and 2) has been cloned by cosmid cloning and chromosomal walking. The entire region was mapped and analyzed for the presence of repetitive sequences. The results show that the affected loci have lost almost 100 kb of DNA in a deletion event not involving homologous or repetitive sequences.
摘要
跨越人类β-珠蛋白基因簇中两个大片段缺失（γβ地中海贫血1型和2型）的DNA已通过黏粒克隆和染色体步移法进行克隆。对整个区域进行了图谱绘制，并分析了重复序列的存在情况。结果表明，在不涉及同源或重复序列的缺失事件中，受影响的基因座已丢失了近100 kb的DNA。
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