【摘要】：目的：歸納總結(jié)遺傳性壓力敏感性周圍神經(jīng)�。╤ereditary neuropathy with liabilityto pressure palsies，HNPP）患者的臨床表現(xiàn)和電生理特征，分析HNPP患者基因變異類型，并探討多重連接依賴性探針擴增（multiplex ligation-dependent probeamplification，MLPA）技術(shù)在HNPP患者基因診斷中的應(yīng)用價值。 方法：收集14例臨床擬診為HNPP患者的臨床資料和DNA樣本，應(yīng)用MLPA技術(shù)檢測該14例患者及5例健康對照者的PMP22（peripheral myelin protein22）基因、TEKT3基因及COX10基因外顯子拷貝數(shù)。MLPA結(jié)果陰性的患者進(jìn)行PMP22基因2-5號外顯子測序。 結(jié)果：入組的14例臨床擬診為HNPP患者中有12例患者基因檢測陽性，該12例患者臨床表現(xiàn)多樣，，其中11例患者進(jìn)行了電生理檢查，表現(xiàn)為運動傳導(dǎo)遠(yuǎn)端潛伏期延長者10例（90.9%），彌漫性感覺神經(jīng)傳導(dǎo)速度下降者10例（90.9%），尺神經(jīng)肘上-肘下易卡壓節(jié)段運動神經(jīng)傳導(dǎo)速度下降者10例（90.9%）。MLPA分析中，14例入組的患者有12例所檢測的PMP22基因、TEKT3基因及COX10基因各外顯子峰面積較健康對照明顯減低，各基因的拷貝數(shù)為1，提示為大片段雜合缺失；另2例臨床擬診的HNPP患者所檢測的PMP22基因、TEKT3基因及COX10基因峰面積正常，各基因拷貝數(shù)為2，未發(fā)現(xiàn)雜合缺失。MLPA結(jié)果陰性的2例患者PMP22基因2-5號外顯子測序未發(fā)現(xiàn)基因突變。 結(jié)論：（1）HNPP具有明顯的臨床異質(zhì)性，其神經(jīng)電生理突出特征為運動傳導(dǎo)遠(yuǎn)端潛伏期延長、彌漫性感覺神經(jīng)傳導(dǎo)速度減慢和尺神經(jīng)肘上-肘下易卡壓節(jié)段運動神經(jīng)傳導(dǎo)速度減慢。（2）本研究入組的HNPP患者85.7%屬于17p11.2區(qū)域1.5Mb大片段缺失致病，與國外報道相似。研究中未發(fā)現(xiàn)PMP22基因內(nèi)部小片段缺失或編碼外顯子突變致病的患者。（3）MLPA技術(shù)能快速、準(zhǔn)確地對HNPP患者的HNPP相關(guān)基因進(jìn)行定量分析，可用于HNPP患者的快速基因診斷。
[Abstract]:Objective: to summarize the clinical and electrophysiological characteristics of patients with hereditary pressure-sensitive peripheral neuropathy (hereditary neuropathy with liabilityto pressure palsies,HNPP), analyze the types of gene variation in patients with HNPP, and explore the multiple junction dependent probe amplification (multiplex ligation-dependent probeamplification,). The value of MLPA) technique in gene diagnosis of HNPP patients. Methods: the clinical data and DNA samples of 14 patients with HNPP were collected. The PMP22 (peripheral myelin protein22 gene of 14 patients and 5 healthy controls was detected by MLPA. The number of copies of TEKT3 gene and COX10 gene exons was sequenced in patients with negative PMP22 gene. Results: of the 14 patients with HNPP, 12 were positive for gene detection. The clinical manifestations of the 12 patients were diverse, and 11 of them underwent electrophysiological examination. The distal latency of motor conduction was prolonged in 10 cases (90.9%), and the conduction velocity of diffused sensory nerve decreased in 10 cases (90.9%). The conduction velocity of motor nerve decreased in 10 cases (90.9%). The PMP22 gene was detected in 12 of 14 patients. The peak area of exons of TEKT3 gene and COX10 gene was significantly lower than that of healthy controls, and the copy number of each gene was 1, suggesting large fragment heterozygous deletion. The peak area of PMP22 gene, TEKT3 gene and COX10 gene was normal in 2 patients with HNPP, and the copy number of each gene was 2. No heterozygous deletion was found. No gene mutation was found in Exon 2 鈮

本文編號：2482582