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目前尚无预测发生治疗相关性ANL及MDS(t-AML/MDS)的方法,本文作者对定位于X染色体的雄激素受体(HIMARA)基因进行了X-连锁的克隆性分析(X- linked clonality assays),发现了由多克隆造血向单克隆造血的转化。可用作预测t-MDS/AML的一种方法。 作者应用位于X染色体的HUMARA克隆性分析。由于来自父本或母本的X染色体在胚胎早期随机失活,失活的HUMARA在第一外显子的5′端有甲基化位点,不能被HpaⅡ切割,而活性的HUMARA则可以被HpaⅡ切割,HUMARA的PCR引物设计在HUMARA酶切位点的5′端,因此,在PCR时活性HUMARA不能被扩增而失活的HUMARA可以扩增;另外,HUMARA第一外显子含有高度多态性重复的(CAG)n,人群中杂合率达
There are no methods for predicting treatment-related ANL and MDS (t-AML/MDS). The authors performed an X-linked cloning analysis of the X-chromosome androgen receptor (HIMARA) gene (X-link). In clonality assays, the conversion from polyclonal hematopoiesis to monoclonal hematopoiesis was found. Can be used as a method for predicting t-MDS/AML. The author used HUMARA clonality analysis on the X chromosome. Since the X chromosome from the male or female parent is randomly inactivated early in the embryonic stage, the inactive HUMARA has a methylation site at the 5′ end of the first exon and cannot be cut by HpaII, whereas the active HUMARA can be For HpaII cleavage, HUMARA PCR primers were designed at the 5′ end of the HUMARA restriction site. Therefore, HUMARA that was inactivated by PCR when active HUMARA could not be amplified could be amplified; in addition, the first exon of HUMARA was highly Repeated (CAG)n, heterozygosity in population