發(fā)布時(shí)間：2018-02-14 15:47

  本文關(guān)鍵詞： 腓骨肌萎縮癥 突變篩查 CMT1B型 CMT2I/J型 MPZ 髓鞘蛋白零　出處：《中南大學(xué)》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：背景及目的：腓骨肌萎縮癥(Charcot-Marie-Tooth disease, CMT)是最為常見的遺傳性周圍神經(jīng)病。其主要的臨床表現(xiàn)為慢性進(jìn)行性四肢遠(yuǎn)端肌無力及肌萎縮,常伴有感覺異常、弓形足、腱反射消失等。根據(jù)其電生理及病理特點(diǎn),CMT分為脫髓鞘型(CMT1型)、軸索型(CMT2型)及中間型(intermediate CMT)。CMT是一種單基因遺傳病,MPZ基因突變導(dǎo)致的CMT1B型約占CMT1型的5%,MPZ基因突變導(dǎo)致的CMT2I/J型大致占CMT2型的5%。此外,尚有MPZ基因突變導(dǎo)致中間型CMT (DI-CMTD)的報(bào)道。此課題針對近10多年來收集的70名CMT先證者進(jìn)行MPZ基因突變篩查并對其臨床表型進(jìn)行歸納總結(jié)。 方法：采用聚合酶鏈?zhǔn)椒磻?yīng)結(jié)合DNA直接測序法對70名CMT先證者行MPZ基因突變檢測。 結(jié)果：1.我們發(fā)現(xiàn)4個(gè)家系及1例散發(fā)患者中4個(gè)不同的MPZ基因點(diǎn)突變,分別是：c.194CT, c.242AT, c.371CT, c.419CG。其中MPZ點(diǎn)突變c.242AT和c.419CG為新發(fā)突變,c.371CT為熱點(diǎn)突變。2.新發(fā)突變c.242AT導(dǎo)致的CMT2I型患者表現(xiàn)為遲發(fā)型但進(jìn)展快,而新發(fā)突變c.419CG導(dǎo)致的CMT1B型患者表現(xiàn)為相對遲發(fā)且進(jìn)展緩慢。3.已知突變導(dǎo)致的CMT患者臨床表現(xiàn)與既往報(bào)道大致相似,但2個(gè)熱點(diǎn)突變(c.371CT)所致的CMT2型家系均無艾迪瞳孔及聽力喪失表現(xiàn)。 結(jié)論：1.中國CMT人群MPZ基因突變頻率為4.35%,CMT1B型占所有CMT1型的3.08%,CMT2I型占所有CMT2型的6%。2.對于發(fā)病年齡較晚但進(jìn)展速度較快且伴有嚴(yán)重感覺異常的CMT2型患者可優(yōu)先開展MPZ基因突變篩查。3.對于發(fā)病年齡相對較晚但進(jìn)展速度相對較慢的CMTl型患者可優(yōu)先開展MPZ基因突變篩查。
[Abstract]:Background and purpose: CMT (Charcot-Marie-Tooth disease CMT) is the most common hereditary peripheral neuropathy. The main clinical manifestations of chronic progressive distal muscle weakness and muscle atrophy, often accompanied by abnormal sensation, arch foot, tendon reflexes. According to the electrophysiological and pathological characteristics, divided into CMT demyelinating type (CMT1 type), axonal type (type CMT2) and intermediate type (intermediate CMT.CMT) is a monogenic disease caused by mutations in the MPZ gene of CMT1B type about CMT1 type 5%, MPZ gene mutation type CMT2I/J to type CMT2 accounted for roughly 5%. in addition, there are mutations in the MPZ gene cause intermediate CMT (DI-CMTD) 70 CMT reports. This topic for the past 10 years collection of proband MPZ gene mutation screening and the clinical phenotypes are summarized.
Methods: polymerase chain reaction (PCR) combined with DNA direct sequencing was used to detect the mutation of MPZ gene in 70 CMT precursor.
Results: we found that 1. of 4 families and 1 sporadic patients in 4 different point mutations of MPZ gene, respectively is: c.194CT, c.242AT, c.371CT, c.419CG. and MPZ point mutations in c.242AT and c.419CG for new mutations, c.371CT is a hot spot mutation.2. new mutation type CMT2I patients showed c.242AT induced delayed onset but the rapid progress of the new mutation type CMT1B patients showed c.419CG caused relatively late and slow progress of known.3. mutations lead to the clinical manifestations of CMT patients had been reported were similar, but the 2 point mutations (c.371CT) CMT2 family by no Addie pupil and hearing loss.
Conclusion: 1. Chinese CMT population MPZ gene mutation frequency was 4.35%, CMT1B accounted for 3.08% of all CMT1 type, CMT2I type accounted for all types of CMT2 6%.2. for CMT2 patients with late onset ages but progress faster and severe abnormal sensation can give priority to the development of MPZ gene mutation screening of.3. in the age of onset is relatively late but CMTl patients progress slower can give priority to the development of MPZ gene mutation screening.

【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

【共引文獻(xiàn)】

相關(guān)期刊論文 前3條

1 Paschalis Nicolaou;Kyproula Christodoulou;;Advances in the molecular diagnosis of Charcot-Marie-Tooth disease[J];World Journal of Neurology;2013年03期

2 郭鵬;翟暉;宋福聰;;腓骨肌萎縮癥臨床表現(xiàn)、基因分型和分子發(fā)病機(jī)制研究進(jìn)展[J];中風(fēng)與神經(jīng)疾病雜志;2013年10期

3 Lei Liu;Ruxu Zhang;;Intermediate Charcot-Marie-Tooth disease[J];Neuroscience Bulletin;2014年06期

相關(guān)碩士學(xué)位論文 前4條

1 史磊;腓骨肌萎縮癥（CMT）的臨床、病理及PMP22基因分析[D];遼寧醫(yī)學(xué)院;2013年

2 李旭寧;59例中國漢族CMT1X患者臨床、電生理和分子遺傳學(xué)特征[D];中南大學(xué);2013年

3 侯池;兒童腓骨肌萎縮癥功能障礙評估及遺傳學(xué)研究[D];首都醫(yī)科大學(xué);2013年

4 姜明明;腓骨肌萎縮癥Seipin、SH3TC2基因突變檢測[D];中南大學(xué);2014年

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本文編號：1511049