X-chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms.
X-chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms.
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健康女性中的 X 染色体失活：随着年龄的增长过度电离的发生率以及涉及 DNA 甲基化和转录多态性的测定的比较。
DOI：
10.1093/clinchem/44.1.61
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发表时间：
1998
影响因子：
9.3
通讯作者：
B. Grandchamp
中科院分区：
文献类型：
--
作者：
N. E. Kassar;G. Hetet;J. Briére;B. Grandchamp
健康女性中的倾斜电离是基于 X 染色体的克隆性测定的主要缺点。由于大多数技术都是基于活性和非活性 X 染色体之间 DNA 甲基化的差异，因此可能会发生不完全的 DNA 消化，从而产生不可靠的克隆结果。在这里，我们比较了在属于三个年龄组的健康女性和一组患有原发性血小板增多症的患者中进行的两种不同技术。第一项技术涉及人类雄激素受体基因，第二项技术涉及艾杜糖醛酸-2-硫酸酯酶、P55 和葡萄糖-6-磷酸脱氢酶基因的转录本分析。除新生儿外，两种技术的结果在大多数情况下都是一致的，并且在健康女性的所有部分中都观察到相同的模式。我们的结论是： (a) 涉及 DNA 和 RNA 多态性的克隆性检测通常是一致的，除了新生儿； (b) 必须选择与样品胚胎学相关的适当对照组织，以消除过度裂解； (c) 获得性偏差随着年龄的增长而增加，而非随机电离是一种罕见的现象。
Skewed lyonization in healthy females represents the major disadvantage of X-chromosome-based clonality assays. Because most techniques are based on the difference in DNA methylation between active and inactive X-chromosomes, incomplete DNA digestion may occur, giving an unreliable clonality result. Here, we compare two different techniques carried out in healthy females belonging to three age groups and in a group of patients with essential thrombocythemia. The first technique involved the human androgen receptor gene, the second the transcript analysis of the iduronate-2-sulfatase, P55, and glucose-6-phospate dehydrogenase genes. Results between both techniques were concordant in most cases except in neonates, and the same pattern was observed in all fractions in healthy females. We conclude that: (a) clonality assays involving DNA and RNA polymorphisms are usually concordant except in neonates; (b) appropriate control tissue embryologically related to the sample must be chosen to eliminate excessive lyonization; (c) acquired skewing increases with age, whereas nonrandom lyonization is a rare phenomenon.
急性髓系白血病的克隆进化。
影响因子：
20.3
作者：
Busque,L;Gilliland,DG
通讯作者：
Gilliland,DG
影响因子：
56.9
作者：
VOGELSTEIN, B;FEARON, ER;FEINBERG, AP
通讯作者：
FEINBERG, AP