本文選題：Dysferlin肌病 + DYSF基因　； 參考：《廣西醫(yī)科大學》2016年碩士論文

【摘要】：目的研究1個來自中國廣西肌肉疾病家系的臨床表型及可能的基因突變。方法收集到1個肌病家系,該家系中共有2例患者,癥狀相似,發(fā)病年齡約21歲左右,首發(fā)癥狀為雙下肢無力和萎縮,緩慢進行性進展。采集先證者及其他家族成員的血樣,提取基因組DNA,采用聚合酶鏈式反應(polymerasechain reaction, PCR)、直接測序法對先證者DYSF基因進行基因檢測。根據先證者的基因檢測結果,對8個其他家族成員進行基因檢測。結果基因檢測結果Duchenne肌營養(yǎng)不良(DMD)基因未發(fā)現(xiàn)存在大片段變異,先證者及其3個家族成員(Ⅱ-2、Ⅱ-3和Ⅲ-1)DYSF基因編碼區(qū)第4個外顯子的第268號核苷酸由C變?yōu)門 (c.268CT)的雜合核苷酸變異,導致編譯第90號氨基酸精氨酸的密碼子變?yōu)榻K止密碼子(p.Arg90Ter),從而使肽鏈合成提前終止。先證者及其他3個家族成員(Ⅰ-1、Ⅱ-2和Ⅲ-2)DYSF基因編碼區(qū)第30個外顯子的第3214號核苷酸由C變?yōu)門 (c.3214CT)的雜合核苷酸變異,導致第1072號氨基酸由精氨酸變?yōu)樯彼?p.Arg1072Trp)。結論通過本研究發(fā)現(xiàn)該家系DYSF基因編碼區(qū)第268位點和第3214位點發(fā)生C→T突變(c.268CT, c.3214CT),結合臨床表型,該家系的患者診斷為Dysferlin肌病,為常染色體隱性遺傳,2個突變點對該病在家系的發(fā)生均起到重要的作用。
[Abstract]:Objective to study the clinical phenotype and possible gene mutation of a family of muscular diseases from Guangxi, China. Methods A family of myopathy was collected. There were 2 patients in this family with similar symptoms. The onset age was about 21 years old. The first symptom was weakness and atrophy of the lower extremities and the progress was slow and progressive. The genomic DNA was extracted from the blood samples of the proband and other family members. Polymerase chain reaction (PCR) was used to detect the DYSF gene of the proband by direct sequencing. According to the gene test results of proband, 8 other family members were tested. Results there was no large fragment mutation in Duchenne muscular dystrophy gene. The heterozygous nucleotide variation of the proband and its three family members (鈪，

本文編號：1981322