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

发布时间：2018-06-01 05:22

本文选题：精神分裂症 + 短串联重复　；参考：《中国病理生理杂志》2014年02期

【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(P0.05);(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%(P0.05),其相对危险度OR=0.448(OR1);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%(P0.05),其OR=1.748(OR1);(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(P0.05)。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。
[Abstract]:Objective: to analyze the association between D6S285 and D6S296 gene polymorphisms in short tandem repeats (STR) sequences in clinical patients and to explore the molecular mechanism of schizophrenia. Methods: 100 patients with schizophrenia in Jiangxi Han nationality were selected as case group and 100 healthy people as control group. Blood samples were collected to extract DNA, and the distribution of D6S285 and D6S296 alleles in STR loci were detected by capillary electrophoresis. Comprehensive use of multiple genetic analysis methods to analyze the results of statistical analysis. Results the frequency of D6S285 and D6S296 alleles in the control group was in accordance with the law of Hardy-Weinberg equilibrium (P 0.05). The detection rate of D6S285-206 allele in the case group was 6.60, which was significantly lower than that in the control group (P 0.05), and its relative risk was 0.448 OR1, and the detection rate of the D6S285-212 allele in the case group was 82.70, significantly lower than that in the control group (P < 0.05). A total of 18 alleles were detected at the D6S296 locus, which was higher than that in the control group (P 0.05). There was no significant difference in the detection rate of alleles between the two groups (P 0.05). Conclusion: there may be a microfunctional gene associated with schizophrenia near the D6S285 locus on the short arm of chromosome 6.
【作者单位】：南昌大学基础医学院;南昌大学公共卫生学院;南昌大学第一附属医院精神卫生科;
【基金】：国家自然科学基金资助项目(No.30860319;No.81160248)
【分类号】：R749.3

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