本文選題：精神發(fā)育遲滯(MR) + SRPX2基因��； 參考：《西北大學》2013年碩士論文

【摘要】：精神發(fā)育遲滯(Mental Retardation, MR)是一類由生物學因素與社會心理因素所導致的神經、精神性疾病,其臨床表現主要為智力低下和社會適應能力障礙。因為該病發(fā)生在生命早期,對兒童的身心健康具有重要的影響,且病因復雜,因此,對其發(fā)病機制以及防治措施的研究一直倍受人們的關注。目前,對MR分子遺傳機制的研究已取得了較大進展。SRPX2基因屬于國際上己報道的X染色體上與MR相關的基因之一。該基因在人類的語言和言語中樞的發(fā)育中具有重要作用,其突變會導致人類語言運用障礙,運動性癲癇以及智力低下。但對該基因與中國人群MR的關系研究目前還尚少見報道。 為了研究SRPX2基因與秦巴山區(qū)MR患者的關系,本研究對秦巴山區(qū)MR患者的SRPX2基因的11個外顯子的編碼區(qū)進行了突變檢測。采用PCR-SSCP方法和DNA測序法,對410名MR患者進行分析,結果檢測出了兩類突變體,具體如下： (1)在3名女性MR患者的SRPX2基因的4號外顯子上,檢測出了一個c.258GA的錯義突變,導致Arg突變?yōu)镠is。此3名女性MR患者均無血緣關系,表現有明顯的輕度或中度智力低下、言語障礙和其他認知能力低下等癥狀。 (2)在另1名女性MR患者SRPX2基因的8號內含子上,檢測出了一個23086TC突變�；颊弑憩F有明顯的輕度智力低下和其他認知能力低下癥狀。 本研究提示,SRPX2基因突變可能是秦巴山區(qū)MR患者的高風險因素,具體的致病機理尚需結合對檢測出的突變患者基因的表達狀況做進一步分析來加以確定。
[Abstract]:Mental retardation (MRM) is a kind of neuropsychiatric disease caused by biological and psychosocial factors. Its clinical manifestations are mainly mental retardation and social adaptability. Because the disease occurs in the early life, has an important impact on the physical and mental health of children, and the etiology is complex, therefore, the pathogenesis of the disease and prevention measures have been paid attention to. At present, great progress has been made in the study of the molecular genetic mechanism of Mr. SRPX2 gene is one of the genes related to Mr on X chromosome reported in the world. The gene plays an important role in the development of human language and speech centers, and its mutation can lead to language use disorders, motor epilepsy and mental retardation. However, there are few reports on the relationship between the gene and Mr in Chinese population. In order to study the relationship between SRPX2 gene and Mr patients in Qinba Mountain region, the mutation of 11 exons of SRPX2 gene was detected. PCR-SSCP and DNA sequencing methods were used to analyze 410 Mr patients. Two types of mutants were detected, as follows: A missense mutation of c.258GA was detected in exon 4 of SRPX2 gene in 3 female Mr patients, resulting in the mutation of Arg into His. All of the 3 female Mr patients were not related to each other and showed obvious mild or moderate mental retardation, speech impairment and other cognitive impairment. A 23086TC mutation was detected in intron 8 of SRPX2 gene in another female Mr patient. The patients showed significant mild mental retardation and other cognitive impairment symptoms. This study suggests that SRPX2 gene mutation may be a high risk factor for Mr patients in Qinba Mountain area. The specific pathogenesis of SRPX2 gene mutation should be further analyzed in combination with further analysis of the gene expression status of the mutant patients.
【學位授予單位】：西北大學
【學位級別】：碩士
【學位授予年份】：2013
【分類號】：R749.93

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