本文選題：精神發(fā)育遲滯 + 核心家系　； 參考：《西北大學(xué)》2012年碩士論文

【摘要】：精神發(fā)育遲滯(mental retardation, MR)是指在人的生長發(fā)育階段,以精神、智力發(fā)育障礙和社會適應(yīng)行為缺陷為主要特征的一組疾病。秦巴山區(qū)是我國MR的高發(fā)區(qū),對該地區(qū)的MR病因研究表明遺傳因素是其主要因素。國外有研究報道位于8號染色體的TUSC3基因(tumor suppressor candidate3)突變可引起MR。本文用分子生物學(xué)方法探討TUSC3基因與秦巴山區(qū)MR的關(guān)系。 本研究選取了TUSC3基因上的8個SNPs位點,以秦巴山區(qū)174個核心家系的456份DNA樣品組成的MR核心家系為材料,用PCR-SSCP方法結(jié)合測序做基因分型。對其結(jié)果進(jìn)行TDT和HRR分析。單位點的TDT和HRR分析表明rs10093881位點、rs6530893位點和rs6994908位點與MR有關(guān)聯(lián),經(jīng)Bonferroni校正后僅有rs6530893位點和rs6994908位點與MR有關(guān)聯(lián)趨勢；單倍型的TDT和HRR分析結(jié)果顯示rs6530893位點和rs6994908位點所組合的單倍型塊與MR有關(guān)聯(lián),經(jīng)Bonferroni校正后仍然顯示該單倍型塊與MR相關(guān)。由于rs6530893位點和rs6994908位點正好在TUSC3基因的6號外顯子兩端,提示在該基因的6號外顯子上可能存在著與秦巴山區(qū)MR有關(guān)的遺傳變異。本文的這一研究結(jié)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.
【學(xué)位授予單位】：西北大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R749.94

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本文編號：1982742