血细胞X染色体失活偏移与女性体质关联性研究

Skewed X-chromosomal Inactivation in Blood Cells Is Associated with Body Constitution of Traditional Chinese Medicine in Females

目的:探索血细胞X染色体失活偏移(skewed X-chromosomal inactivation,SXCI)与女性体质的关联性。方法:对15岁以上、获知情同意的1 103例健康女性,采用标准化中医体质量表计算各亚量表分数,判定个体为平和质或偏颇体质。对上述个体的外周血标本,提取基因组DNA,经HpaⅡ消化后,PCR扩增雄激素受体(androgen receptor,AR)基因,产物经变性聚丙烯酰胺凝胶电泳,银染显示结果,比较HpaⅡ消化前后AR基因扩增产物的强度差异,计算其校正比值(CR)。结果:以CR≥3为判断SXCI标准时,平和质、气虚质、阳虚质、阴虚质、痰湿质、湿热质、瘀血质、气郁质、特禀质组间SXCI的发生率分别为8.9%(33/370)、32.0%(48/150)、8.1%(5/62)、11.3%(6/53)、18.4%(16/87)、22.9%(19/83)、10.9%(5/46)、29.0%(29/100)和8.0%(4/50),发生率间有显著性差异(χ2=61.071,P<0.05)。气虚质、痰湿质、湿热质与气郁质SXCI发生率较高,分别为32.0%(48/150)、18.4%(16/87)、22.9%(19/83)和29.0%(29/100)。分型与SXCI关联系数为0.244(P<0.05),差异有统计学意义。结论:血细胞SXCI与女性体质关联。

Objective： To elucidate the correlation between skewed X chromosome inactivation（SXCI） and body constitution of traditional Chinese medicine （TCM） in females. Methods： The types of TCM body constitution of 1 103 normal females above 15 years old, from which a written informed consent was obtained, were assessed using the standard Constitution in Chinese Medicine Questionnaire （CCMQ） based on the scores of sub-CCMQ. Meanwhile, DNA was isolated from mononuclear blood cells from the subjects. Exon 1 of androgen receptor fAR） gene was amplified, with its products from different alleles resolved on denaturing polyacrylamide gels and visualized by silver staining. The corrected ratio （CR） of the AR allele for each Hpa Ⅱ digested and auto-control sample pair was calculated. Results： With CR≥10 adopted as the criterion, the SXCI frequencies in normal constitution, and body constitution types of Qideficiency, Yang-deficiency, Yin-deficiency, phlegm-dampness, dampness-heat, blood stasis, Qi-stagnation and special diathesis were 8.9%（33/370）, 32.0%（48/150）, 8. 1%（5/62）, 11.3%（6/53）, 18.4% （16/87）, 22.9%（19/83）, 10.9%（5/46）, 29.0%（29/100） and 8.0%（4/50）（X2=61. 071,P=0. 000）, respectively, and the correlated value between body constitution in TCM and SXCI was 0. 244（P=0. 000）. Conclusions： SXCI in blood cells is associated with body constitution of TCM in females.