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泰国Gγ(Aγδβ)o型地中海贫血的不同分子缺陷

Different molecular defects of G gamma (A gamma delta beta)o-thalassaemia in Thailand.

作者信息

Fucharoen S, Winichagoon P, Chaicharoen S, Wasi P

机构信息

Thalassaemia Centre, Faculty of Graduate Studies, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Eur J Haematol. 1987 Aug;39(2):154-60.

PMID:2889616
Abstract

DNA from members of 2 Thai families with conditions considered to be delta beta-thalassaemia were studied by using restriction endonuclease DNA mapping. The propositus in family A is a double heterozygote for beta-thalassaemia and delta beta-thalassaemia. DNA analysis reveals a deletion of the beta-globin gene cluster starting at the area between the Sac I and Eco RI sites near the 3' end of the G gamma-gene and extending through the A gamma-, delta- and beta-genes to an unknown extent downstream. In family B, the propositus is delta beta-thalassaemia/Hb E. Deletion of the beta-globin gene cluster begins in the large intervening sequence of the A gamma-gene and removes both delta- and beta-genes downstream.

摘要

通过使用限制性内切酶DNA图谱分析,对2个患有被认为是δβ地中海贫血症的泰国家庭成员的DNA进行了研究。A家族的先证者是β地中海贫血症和δβ地中海贫血症的双重杂合子。DNA分析显示,β珠蛋白基因簇发生缺失,起始于Gγ基因3'端附近的Sac I和Eco RI位点之间的区域,并延伸穿过Aγ、δ和β基因,向下游延伸至未知长度。在B家族中,先证者是δβ地中海贫血症/Hb E。β珠蛋白基因簇的缺失始于Aγ基因的大间隔序列,并去除了下游的δ和β基因。

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