基于核心家系的TUSC3基因与秦巴山区精神发育迟滞的关联分析

发布时间：2018-06-05 16:54

本文选题：精神发育迟滞 + 核心家系　；参考：《西北大学》2012年硕士论文

【摘要】：精神发育迟滞(mental retardation, MR)是指在人的生长发育阶段,以精神、智力发育障碍和社会适应行为缺陷为主要特征的一组疾病。秦巴山区是我国MR的高发区,对该地区的MR病因研究表明遗传因素是其主要因素。国外有研究报道位于8号染色体的TUSC3基因(tumor suppressor candidate3)突变可引起MR。本文用分子生物学方法探讨TUSC3基因与秦巴山区MR的关系。本研究选取了TUSC3基因上的8个SNPs位点,以秦巴山区174个核心家系的456份DNA样品组成的MR核心家系为材料,用PCR-SSCP方法结合测序做基因分型。对其结果进行TDT和HRR分析。单位点的TDT和HRR分析表明rs10093881位点、rs6530893位点和rs6994908位点与MR有关联,经Bonferroni校正后仅有rs6530893位点和rs6994908位点与MR有关联趋势；单倍型的TDT和HRR分析结果显示rs6530893位点和rs6994908位点所组合的单倍型块与MR有关联,经Bonferroni校正后仍然显示该单倍型块与MR相关。由于rs6530893位点和rs6994908位点正好在TUSC3基因的6号外显子两端,提示在该基因的6号外显子上可能存在着与秦巴山区MR有关的遗传变异。本文的这一研究结果值得做更深入的探索。
[Abstract]:Mental retardation (MR) refers to a group of diseases characterized by mental, mental retardation and social adaptive behavior defects in the human growth stage. Qinba mountain area is the high incidence area of MR in China. The study of the cause of MR in the region shows that genetic factors are the main factors. The TUSC3 tumor (suppressor candidate3) mutation of chromophore can cause MR.. In this paper, the relationship between TUSC3 gene and MR in Qinba mountain area is studied by molecular biology.
In this study, 8 SNPs loci on TUSC3 gene were selected, and the MR core family of 456 DNA samples from 174 core families in Qinba mountain area was used as the material. The PCR-SSCP method combined with sequencing was used to make a genetic typing. The results were analyzed by TDT and HRR. The TDT and HRR analysis of unit points showed rs10093881, rs6530893 and rs6994908 sites. MR was associated and only the rs6530893 and rs6994908 loci were associated with MR after Bonferroni correction. The haplotype TDT and HRR analysis showed that the haplotype blocks of the rs6530893 and rs6994908 sites were associated with MR, and the single block was still associated with MR after Bonferroni correction. The 08 locus is just at the end of the exon 6 of the TUSC3 gene, suggesting that there may be a genetic variation associated with the MR of the Qinba Mountain Area in the exon 6 of the gene. The results of this study are worthy of further exploration.
【学位授予单位】：西北大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R749.94

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