秦巴山区智力低下人群SRPX2基因编码区突变检测

发布时间：2018-05-07 08:05

本文选题：精神发育迟滞(MR) + SRPX2基因　；参考：《西北大学》2013年硕士论文

【摘要】：精神发育迟滞(Mental Retardation, MR)是一类由生物学因素与社会心理因素所导致的神经、精神性疾病,其临床表现主要为智力低下和社会适应能力障碍。因为该病发生在生命早期,对儿童的身心健康具有重要的影响,且病因复杂,因此,对其发病机制以及防治措施的研究一直倍受人们的关注。目前,对MR分子遗传机制的研究已取得了较大进展。SRPX2基因属于国际上己报道的X染色体上与MR相关的基因之一。该基因在人类的语言和言语中枢的发育中具有重要作用,其突变会导致人类语言运用障碍,运动性癫痫以及智力低下。但对该基因与中国人群MR的关系研究目前还尚少见报道。为了研究SRPX2基因与秦巴山区MR患者的关系,本研究对秦巴山区MR患者的SRPX2基因的11个外显子的编码区进行了突变检测。采用PCR-SSCP方法和DNA测序法,对410名MR患者进行分析,结果检测出了两类突变体,具体如下： (1)在3名女性MR患者的SRPX2基因的4号外显子上,检测出了一个c.258GA的错义突变,导致Arg突变为His。此3名女性MR患者均无血缘关系,表现有明显的轻度或中度智力低下、言语障碍和其他认知能力低下等症状。 (2)在另1名女性MR患者SRPX2基因的8号内含子上,检测出了一个23086TC突变。患者表现有明显的轻度智力低下和其他认知能力低下症状。本研究提示,SRPX2基因突变可能是秦巴山区MR患者的高风险因素,具体的致病机理尚需结合对检测出的突变患者基因的表达状况做进一步分析来加以确定。
[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.
【学位授予单位】：西北大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R749.93

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