[肌膜蛋白缺乏：一个中国家系中肢带型肌营养不良2B型和宫下型肌病的病因]
[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].
作者信息
Sun Shunchang, Fan Qishi, Wu Huacheng, Leturcq France, Zhang Bingfeng, Yu Wen, Deburgrave Nathalie, Liu Ming, Song Yongjian
机构信息
Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):128-31.
OBJECTIVE
To identify an inbred Chinese pedigree with autosomal recessive muscular dystrophy and analyze the molecular defects.
METHODS
Linkage analysis was conducted using short tandem repeat(STR) markers from the regions associated with limb-girdle muscular dystrophy type 2A(LGMD2A) through 2H. Multi-Western blot was performed with anti-calpain-3, anti-dysferlin, anti-gamma-sarcoglycan, anti-alpha-sarcoglycan, and anti-dystrophin monoclonal antibodies. Mutation was determined by reverse transcriptase-polymerase chain reaction and sequencing.
RESULTS
Two-point linkage analysis showed significant Lod scores with markers from chromosome 2p13, the highest two-point Lod scores were obtained with D2S337 (Z(max)=1.86 at theta=0). Multi-Western blot confirmed dysferlin deficiency of muscle specimen from the proband. Mutation analysis revealed a novel 6429delG mutation on exon 53 of the DYSF gene for the proband.
CONCLUSION
The authors identified an inbred Chinese pedigree with Miyoshi myopathy caused by a 6429delG on the DYSF gene. This mutation is predicted to result in premature termination of translation.
目的
鉴定一个患有常染色体隐性遗传性肌营养不良的中国近亲家系，并分析其分子缺陷。
方法
通过使用与2A 型肢带型肌营养不良（LGMD2A）至2H 相关区域的短串联重复序列（STR）标记进行连锁分析。使用抗钙蛋白酶-3、抗肌膜蛋白、抗γ-肌聚糖、抗α-肌聚糖和抗肌营养不良蛋白单克隆抗体进行多重蛋白质免疫印迹分析。通过逆转录聚合酶链反应和测序确定突变。
结果
两点连锁分析显示与2号染色体p13上的标记有显著的Lod值，使用D2S337获得最高的两点Lod值（在θ=0时Z（max）=1.86）。多重蛋白质免疫印迹证实了先证者肌肉标本中肌膜蛋白缺乏。突变分析揭示了先证者DYSF基因第53外显子上一个新的6429delG突变。
结论
作者鉴定了一个由DYSF基因上的6429delG引起的中国近亲家系，该家系患有三泽型肌病。预计该突变会导致翻译提前终止。
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