本文選題：seipin　切入點(diǎn)：SH3TC2　出處：《中南大學(xué)》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：背景和目的：腓骨肌萎縮癥(Charcot-Marie-Tooth Disease, CMT)又稱遺傳性運(yùn)動感覺性神經(jīng)病(HMSN),是最常見的單基因遺傳性周圍神經(jīng)病之一,發(fā)病率約1/2500。根據(jù)電生理和病理特征又可分為3型：CMT1型(脫髓鞘型)、CMT2型(軸突型)和CMT中間型。CMT具有高度的臨床和遺傳異質(zhì)性,多個致病基因已被克隆。人類seipin基因又稱Berardinelli-Seip先天性脂質(zhì)營養(yǎng)不良基因(BSCL2), seipin基因突變引起的相關(guān)的運(yùn)動神經(jīng)元疾病被稱之為"seipin病”,其中包括CMT2。SH3TC2基因突變可引起4C型CMT (CMT4C)和正中神經(jīng)的單神經(jīng)病。CMT4C是一類常染色體隱性遺傳的脫髓鞘型CMT。本課題針對基因診斷未明確的CMT2型病人進(jìn)行seipin基因突變篩查檢測,同時對常染色體隱性遺傳和散發(fā)的CMT病人進(jìn)行SH3TC2基因突變篩查檢測。 方法：1.取50例臨床表現(xiàn)、電生理或病理活檢結(jié)果符合CMT2型診斷標(biāo)準(zhǔn)的患者行seipin基因PCR-直接測序篩查檢測；2.取80例常染色體隱性遺傳家系先證者(13例)和散發(fā)(67例)的CMT患者行SH3TC2基因PCR-直接測序篩查檢測。 結(jié)果：1.篩查出seipin基因一多態(tài)位點(diǎn)c.55GA；2.篩查出SH3TC2基因五個序列變異位點(diǎn)c.512GA、c.1402GT、c.283CG、 c.3143TC和c.3313GA.其中c.512GA、c.1402GT為多態(tài)位點(diǎn)而c.283CG、c.3143TC和c.3313GA暫未見報道。 結(jié)論：1.CMT2型患者可以在篩查了常見CMT2型致病基因后進(jìn)行seipin基因的點(diǎn)突變篩查,而隱性遺傳家系先證者和散發(fā)病例在篩查了常見CMT致病基因以及常見隱性遺傳致病基因后可以進(jìn)一步進(jìn)行SH3TC2致病基因的點(diǎn)突變檢測；2.SH3TC2基因三個序列變異位點(diǎn)c.283CG、c.3143TC和c.3313GA暫未見報道的新發(fā)序列變異位點(diǎn)。圖8幅,表9個,參考文獻(xiàn)27篇
[Abstract]:Background and objective: Charcot-Marie-Tooth Disease (CMT), also known as hereditary motor sensory neuropathy (CMT), is one of the most common genetic peripheral neuropathy. The incidence rate is about 1 / 2 500. According to the electrophysiological and pathological characteristics, it can be divided into 3 types: CMT1 (demyelinating CMT2 (axonal type) and CMT intermediate type. CMT has high clinical and genetic heterogeneity. Several pathogenic genes have been cloned. Human seipin gene, also known as Berardinelli-Seip congenital lipid dystrophy gene BSCL2, seipin gene mutation caused by the associated motor neuron disease known as "seipin disease", including CMT2.SH3TC2 gene mutation can cause 4C type. CMT (CMT4C) and median nerve mononeuropathy. CMT4C is an autosomal recessive demyelinating CMT. In this study, seipin gene mutation screening was carried out in patients with CMT2 type whose gene diagnosis was not clear. The mutation of SH3TC2 gene in autosomal recessive and sporadic CMT patients was also detected. Methods 50 cases of clinical manifestations were taken. Patients with electrophysiological or pathological biopsy who met the diagnostic criteria of CMT2 type were screened for seipin gene PCR-direct sequencing. (13 patients with autosomal recessive genetic pedigree) and 67 patients with sporadic CMT were selected for SH3TC2 gene PCR-direct screening. Then sequenced the screening test. Results 1. The polymorphic loci of seipin gene c. 55GAN 2 were screened out. Five mutation loci of SH3TC2 gene, c.512GAAc. 1402GTC283CG, c. 3143TC and c.3313GA. were screened. Among them, c. 512GAAc. 1402GT was polymorphic, while c.283CGc.3143TC and c.3313GA were not reported. Conclusion: 1. CMT2 patients can be screened for point mutation of seipin gene after screening common CMT2 pathogenic genes. After screening common CMT pathogenic genes and common recessive genetic pathogenic genes, proband and sporadic cases of recessive genetic families can further detect the point mutations of SH3TC2 pathogenic genes. C. 3313GA not yet reported new sequence variation loci. Figure 8, Table 9, 27 references
【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2014
【分類號】：R746.4

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

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本文編號：1588673