摘要
女性体细胞组织是由来自父系、母系两类细胞构成的嵌合体，部分细胞中父本X染色体有活性，其余细胞中母本X染色体有活性。理论上，有活性的父本X染色体连锁基因与有活性的母本X染色体连锁基因的数量应为1：1；这一比率发生显著偏差，称为X染色体失活偏移(skewed X-chromosome inactivation，SXCI)。临床流行病学资料已经显示，血细胞SXCI与女性卵巢癌、乳腺癌早期发生有显著关联。然而，非肿瘤患者及用作对照的健康个体也可以发生SXCI。来源于不同实验室的数据则报道了不同的SXCI发生率。目前还未见到有关中国健康女性个体SXCI发生率的报道。
本课题拟了解健康中国女性个体SXCI的发生状况，并明确年龄因素是否与之关联；检测女性肺癌、食管癌患者血细胞X染色体失活模式以及SXCI发生，观察SXCI与女性肺癌、食管癌发生的关系；进一步探讨这项基于分析血细胞的X染色体基因多态性的检测技术成为筛查恶性肿瘤高危个体方法的可能；本课题亦研究了中国健康女性雄激素受体(AR)基因的CAG短串联重复序列(short-tandem repeat，STR)的重复次数n值的分布范围，初步探讨了女性食管癌与AR基因的CAG STR重复数目之间的关系。
Random X-chromosome inactivation, also known as Lyonization, results in the transcriptional silencing of almost all genes located in one of the two X chromosomes of diploid female cells. It occurs during the interphase early in embryogenesis when one X chromosome is randomly inactivated by extensive methylation and condensation to form the sex chromatin body. The remaining, uncondensed one becomes the active X chromosome and is inherited by all daughter cells through subsequent mitotic division. Because this process is random, adult female tissues are cellular mosaics, wherein half of the cells contain an active maternal X chromosome (Xm) and the other half contain an active paternal X chromosome (Xp).
Theoretically, the ratio of the paternal inactive X-linked allele to maternal one should be 1:1, and any significant deviation from the ratio is termed as skewed X chromosome inactivation (SXCI). Lyonization ratio (inactive Xp/Xm) of a large population of females follows a Gaussian distribution pattern in which SXCI is a statistically rare event. The recent surveys have associated SXCI to the development
引文
陈灏珠 主编．实用内科学 第10版．人民卫生出版社：1547
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