两个新疆维吾尔族假肥大型肌营养不良症家系的基因诊断  

The gene diagnosis of two Xinjiang Uygur families with Duchenne/Becker muscular dystrophy

作　　者：崔春生[1] 赵荣枝[1] 沙莎[1] 黄尚志[2] 托坎.艾拜 郭卉[1] 

机构地区：[1]新疆医科大学生物学教研室,新疆乌鲁木齐830054 [2]中国医学科学院基础所遗传室,北京100005

出　　处：《新疆医科大学学报》2001年第3期207-209,共3页Journal of Xinjiang Medical University

摘　　要：目的:对两个新疆维吾尔族假肥大型肌营养不良症家系进行基因诊断。方法:首先应用 9对外显子引物多重聚合酶链反应 (m PCR)对 9个易缺失外显子进行缺失型检测 ,再结合另外 6对引物进行短串联重复序列(STR)多态性分析 ,对两个新疆维吾尔族假肥大型肌营养不良症家系进行基因诊断和携带者检出。 结果 :一例散发患者检测为第 48外显子缺失 ;在另一例有家族史的家系中未检测到 9对外显子缺失 ,通过应用另外 6对引物进行短串联重复序列多态性分析 ,对该家系中的 5位女性亲属进行了携带者检测 ,检出携带者 4位。结论:应用 9对外显子引物多重聚合酶链反应 ,结合 6对引物的短串联重复序列多态性分析 ,适用于新疆维吾尔族假肥大型肌营养不良症家系的基因诊断 ,既经济实用 。Objective: To perform gene diagnosis and carriers examination of two Xinjiang Uygur families with Duchenne/Becker muscular dystrophy. Methods: Persons in two families were analyzed with multiplex polymerase chain reaction (mPCR) and short tandem repeats (STR) haploid linkage analysis. Results: In one sporadic family, the exon 48 was deleted. In another family, the 9 exons were not detected deletions. By using STR haploid linkage analysis, we detected 4 carriers in 5 female relatives in the nondeletive family. Conclusion: The results suggest that the combination of multiplex PCR and short tandem repeats (STR) haploid linkage analysis are effective methods in Xinjiang Uygur DMD/BMD families.

关 键 词：假肥大型肌营养不良症 多重PCR 短串联重复序列多态性 新疆维吾尔族 

分 类 号：R746.2[医药卫生—神经病学与精神病学]