景洪地区6例β－地中海贫血的临床和基因分析

Clinical and Genetic Analysis of β-mediterranean Anemia

应用ＤＮＡ探针和聚合酶链反应技术对景洪地区６例经临床血液学、血红蛋白电泳和血红蛋白区带定量诊断的β－地中海贫血患者（主要为傣族）进行基因突变类型研究，结果显示：基因突变类型为Ｃｏｄｏｎ４１－４２（－ＴＴＣＴ）３例；Ｃｏｄｏｎ７１－７２（＋Ａ）１例；Ｃｏｄｏｎ１７（Ａ－Ｔ）１例；－２８（Ａ－Ｇ）１例四类。为即将开始的基因治疗提供了科学依据；对开展基因分析、遗传咨询、产前诊断和婚姻指导亦有重要意义。

Applying probe needle and the technique of polymerization chain reaction, we made a type research of gene mutation on 6 cases of β-Mediterranean anemia, who were mostly of Dai nationality and diagnosed by means of hematology, hemoglobion electrophoresis and hemoglobin zonal fixed quantity. The results indicated four types of gene mutation including 3 cases of Codon 41-42(-TTCT). one case of Codon 71-72(+A) and one case of-28(A-G), which provides scientific basis for genetic treatment and are of great significance for genetic analysis and counselling, prenatal diagnosis and marriage instruction.