江西地区汉族精神分裂症与短串联重复序列D6S285和D6S296多态性的关联分析  

Association between polymorphisms of short tandem repeats D6S285/D6S296 and schizophrenia among the Han nationality in Jiangxi area

作　　者：余波[1] 李悦[2] 朱春潮[1] 杨晓红[1] 章洁[1] 袁也丰[3] 罗达亚[1] 徐方云[1] 

机构地区：[1]南昌大学基础医学院,江西南昌330006 [2]南昌大学公共卫生学院,江西南昌330006 [3]南昌大学第一附属医院精神卫生科,江西南昌330006

出　　处：《中国病理生理杂志》2014年第2期268-273,共6页Chinese Journal of Pathophysiology

基　　金：国家自然科学基金资助项目(No.30860319;No.81160248)

摘　　要：目的:分析临床患者短串联重复(STR)序列D6S285和D6S296的基因多态性与精神分裂症的关联性,探讨精神分裂症发病学的分子机制。方法:选取江西地区汉族精神分裂症患者100例为病例组,健康人群100例为对照组,采集血液样本抽提DNA;采用毛细管电泳技术检测分析STR位点D6S285和D6S296的各等位基因的分布,综合运用多种遗传学分析方法统计分析检测结果。结果:(1)对照组D6S285和D6S296各等位基因频率符合Hardy-Weinberg平衡定律(P>0.05);(2)病例组D6S285-206等位基因的检出率为6.60%,明显低于对照组的13.70%(P<0.05),其相对危险度OR=0.448(OR<1);病例组D6S285-212等位基因的检出率为82.70%,明显高于对照组的73.20%(P<0.05),其OR=1.748(OR>1);(3)在D6S296位点上共检测到18种等位基因,各等位基因的检出率在两组间比较差异均无统计学意义(P>0.05)。结论:人类6号染色体短臂上的D6S285位点附近可能存在与精神分裂症有关联的微效基因。AIM： To analyze the association between the genetic polymorphisms of short tandem repeat （STR） sequences of D6S285/D6S296 and schizophrenia. METHODS： Schizophrenia patients of HaM nationality in Jiangxi prov- ince （n = 100） were selected as case group, and 100 normal people served as control group. DNA was extracted from the blood samples and the allelic frequency distribution of STR loci D6S285 and D6S296 was detected by capillary electrophore- sis and analyzed by comprehensive genetic methods. RESULTS ： The distribution of the alleles in D6S285 and D6S296 in control group was confirmed to match the Hardy-Weinberg equilibrium （P 〉 0.05 ）. The detection rate of D6S285-206 al- leles in case group was 6.60%, which was obviously less than that in control group （13.70% , P 〈 0.05 ）, and the rela- tive risk OR was 0.448（ OR 〈 1 ）. The detection rate of I）6S285-212 alleles in case group was 82.70%, which was obvi- ously higher than that in control group （73.20%, P 〈0.05）, and the OR was 1. 748（ OR 〉 1 ）. Eighteen alleles were de- tected at the D6S296 locus, but no statistically significant difference was found between the 2 groups （ P 〉 0.05 ）. CON- CLUSION： The results indicate that minor genes associated with schizophrenia may exist at the D6S285 locus on the short arm of human chromosome 6.

关 键 词：精神分裂症 短串联重复 基因多态性 

分 类 号：R363[医药卫生—病理学]