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限制性内切酶谱直接分析
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The genotype of 105 hemoglobin H disease(Hb H) patients in Guangdong area was examined with α globin gene probe and restriction endonuclease direct analysis method. Fourteen cases of non-deletion type(13.3%), 91 cases of deletion type(86.7%), including 59 of rightward-deletion type(64.8%) and 32 of leftward-deletion type (35.2%)were detected. Prenatal diagnosis was performed in 17 cases of Hb H high risk fetus, which revealed 5 cases of heterozygote of α-thalassemia(thal)2, 3 cases of Hb H disease,5 cases...

The genotype of 105 hemoglobin H disease(Hb H) patients in Guangdong area was examined with α globin gene probe and restriction endonuclease direct analysis method. Fourteen cases of non-deletion type(13.3%), 91 cases of deletion type(86.7%), including 59 of rightward-deletion type(64.8%) and 32 of leftward-deletion type (35.2%)were detected. Prenatal diagnosis was performed in 17 cases of Hb H high risk fetus, which revealed 5 cases of heterozygote of α-thalassemia(thal)2, 3 cases of Hb H disease,5 cases of heterozygote of α-thal or normal, and 1 case of Hb Bart's hydrop fetus. In 3 subjects the genotype was uncertain because one side of the parents was of the non-deletion type of α-thal.We compared the cases of deletion type and non-deletion type in termes of the relative content of Hb H and Hb. The results showed the Hb content of non-deletion type Hb H disease was significantly lower than that of deletion type (P<0. 00l), but the relative content of Hb of the non-deletion group was significantly higher than that of the deletion group (P<0.005).

为了解广东地区血红蛋白H病基因型的分布特点及各基因型频率,对广东地区105例血红蛋白H(HbH)病患者采用α珠蛋白基因探针-限制性内切酶谱直接分析法,进行了基因型分析,检出非缺失型HbH病14例(13.3%);缺失型HbH病91例(86.7%).其中右缺失型59例,占缺失型HbH64.8%;左缺失型32型,占35.2%。对17例HbH病高危胎儿进行了产前基因诊断,结果有5例为α地贫2杂合子,3例HbH病,5例α地贫1杂合于或正常,1例HbBart's水肿胎,其余3例由于双亲一方为非缺失型α地贫,故对胎儿的基因型不能作出准确判断。还对缺失型和非缺失型HbH病的血红蛋白和血红蛋白H的相对含量进行了比较,结果显示非缺失型HbH病的血红蛋白含量显著低于缺失型HbH病(P<0.001),而血红蛋白H相对含量则显著高于缺失型HbH病(P<0.005).为高危胎儿的产前诊断提供了依据。

 
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