Dysferlin肌病一家系DYSF基因突变研究

发布时间：2018-06-05 08:22

  本文选题：Dysferlin肌病 + DYSF基因　； 参考：《广西医科大学》2016年硕士论文

【摘要】：目的研究1个来自中国广西肌肉疾病家系的临床表型及可能的基因突变。方法收集到1个肌病家系,该家系中共有2例患者,症状相似,发病年龄约21岁左右,首发症状为双下肢无力和萎缩,缓慢进行性进展。采集先证者及其他家族成员的血样,提取基因组DNA,采用聚合酶链式反应(polymerasechain reaction, PCR)、直接测序法对先证者DYSF基因进行基因检测。根据先证者的基因检测结果,对8个其他家族成员进行基因检测。结果基因检测结果Duchenne肌营养不良(DMD)基因未发现存在大片段变异,先证者及其3个家族成员(Ⅱ-2、Ⅱ-3和Ⅲ-1)DYSF基因编码区第4个外显子的第268号核苷酸由C变为T (c.268CT)的杂合核苷酸变异,导致编译第90号氨基酸精氨酸的密码子变为终止密码子(p.Arg90Ter),从而使肽链合成提前终止。先证者及其他3个家族成员(Ⅰ-1、Ⅱ-2和Ⅲ-2)DYSF基因编码区第30个外显子的第3214号核苷酸由C变为T (c.3214CT)的杂合核苷酸变异,导致第1072号氨基酸由精氨酸变为色氨酸(p.Arg1072Trp)。结论通过本研究发现该家系DYSF基因编码区第268位点和第3214位点发生C→T突变(c.268CT, c.3214CT),结合临床表型,该家系的患者诊断为Dysferlin肌病,为常染色体隐性遗传,2个突变点对该病在家系的发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，

本文编号：1981322