摘要
本文报道１９９２年～１９９４年间对玉溪地区８例β－地中海贫血进行临床、血红蛋白电泳等检查，并应用聚合酶链反应（ＰＣＲ）技术进行分子生物学检查的结果。首次证实玉溪地区β－地中海贫血的基因突变类型存在有Ｃｏｄｏｎ１７，Ａ→Ｔ；Ｃｏｄｏｎｓ４１－４２，－ＴＴＣＴ；Ｃｏｄｏｎｓ７１－７２，＋Ａ三种类型。本组病例中３例傣族均为Ｃｏｄｏｎｓ４１－４２；－ＴＴＣＴ；Ｃｏｄｏｎｓ７１－７２，＋Ａ双重突变，玉溪地区傣族中是否还存在其它基因突变类型，有待进一步研究。
This paper reports the results of clinical examination, hemoglobin electrophoresis and polymerase chain reaction determination of 8 cases of β-thalassemia in Yuxi region , Yunnan from 1992 to 1994. It is the first time to prove the existence of codon 17, A→T; codons 41 -42,- TTCT; and codons 71-72,+A of genes mutations types of β-thalassemia in this region. The genes mutations of three cases of Dai nationality were the same(codons 41-42,-TTCT; codons 71-72,+A) double mutations. It awaits further studies on the possibility of other gene mutation types among the Dai nationality in Yuxi region.
