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沙特阿拉伯人中的双杂合子左/右缺失型α地中海贫血

Double heterozygote leftward/rightward deletion type alpha-thalassaemia in Saudi Arabs.

作者信息

el-Hazmi M A, Warsy A S

出版信息

Hum Hered. 1986;36(4):222-6. doi: 10.1159/000153630.

Abstract

Restriction endonucleases have been used for the investigation of deletion type alpha-thalassaemias in the Saudi population. Using Bgl II digestion, we diagnosed 2 cases with 15.8- and 7.0-kb alpha-globin gene fragments. The 15.8-kb Bgl II fragment is obtained in cases with rightward deletion, while the 7.0-kb fragment occurs in cases with leftward deletion. The 2 cases reported in this paper are heterozygous leftward/rightward deletion cases. The Bam HI digestion results and haematological parameter values are reported. This is the first report of heterozygous leftward/rightward deletion in the Saudi population.

摘要

限制性内切酶已被用于研究沙特人群中的缺失型α地中海贫血。通过Bgl II酶切,我们诊断出2例分别带有15.8 kb和7.0 kbα珠蛋白基因片段的病例。15.8 kb的Bgl II片段出现在向右缺失的病例中,而7.0 kb的片段出现在向左缺失的病例中。本文报道的这2例为左/右向缺失杂合子病例。同时报告了Bam HI酶切结果和血液学参数值。这是沙特人群中左/右向缺失杂合子的首次报告。

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