应用 X 连锁 HUMARA 基因多态性分析血细胞群的克隆性

Clonal analysis of blood cells using X linked HUMARA gene polymorphism

目的：探讨血细胞克隆性分析的方法。方法：采用ＰＣＲ和变性聚丙烯酰胺凝胶电泳法对Ｘ连锁人雄激素受体（ＨＵＭＡＲＡ）基因在我国女性中的杂合率以及该基因甲基化位点与Ｘ染色体灭活的相关性进行了研究，并采用ＨＵＭＡＲＡ基因多态性为标志分析了２０名正常女性和３０例女性急性髓系白血病（ＡＭＬ）未治患者的血细胞克隆性。结果：我国女性ＨＵＭＡＲＡ基因的杂合率为８８％，并且其甲基化方式与Ｘ染色体灭活稳定相关，１７名杂合子正常女性中１５名为多克隆性造血，２名呈现假性单克隆造血。２７例杂合子ＡＭＬ患者均为单克隆性造血。结论：Ｘ连锁ＨＵＭＡＲＡ基因多态性是一个很实用的克隆性标志，可用于血细胞的克隆性分析。

Objective:To explore the method for clonal analysis of blood cells.Methods:Thirty female AML patients and 20 normal female subjects were analysed by the analysis of X linked HUMARA gene polymorphism and methylation pattern.Results:The heterozygote rate of HUMARA gene in Chinese women was 88% and the gene had a stable methylation pattern.Out of 20 control females,17 were heterozygotes and among them 15 were polyclonal,2(11.8%) showed skewed X inactivation.All heterozygote AML were clonal hematopoiesis.Conclusion:HUMARA gene polymorphism is a good marker for clonality analysis of blood cells.