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弹性纤维假黄瘤ABCC6基因突变检测 被引量:1

Mutation of ABCC6 gene in a Chinese patient with pseudoxanthoma elasticum
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摘要 目的对弹性纤维假黄瘤患者的ABCC6基因突变进行检测,为进一步开展基因诊断和基因治疗奠定基础。方法采用聚合酶链反应扩增患者和健康对照个体ABCC6基因的全部外显子,直接测序法进行DNA测序,100例无亲缘关系的正常人作为对照。结果在1例散发患者中检测到1个错义突变(3940C→T),导致其编码蛋白第1314位精氨酸变成色氨酸(R1314W)。其他无亲缘关系的正常对照均未发现该突变。结论该错义突变可影响基因转录和翻译产物,是ABCC6基因的特异性突变。 Objective To identify the mutations of the ABCC6 gene in Chinese patients with Pseudoxanthoma Elasticum(PXE). Methods All the coding exons of ABCC6 gene were amplified by polymerase chain reaction and products were analyzed by direct sequencing. Results A missense mutation c. 3940C 〉T(p. R1314W) was identified in a sporadic case, but normal in all controls. Conclusion The missense mutation(3940C-T) in the ABCC6 gene seem to be the pathologic cause of the chinese patient.
出处 《安徽医科大学学报》 CAS 北大核心 2008年第2期206-208,共3页 Acta Universitatis Medicinalis Anhui
基金 安徽省科技厅“十一五”重点实验室经费资助 安徽省教育厅“十一五”省级重点学科经费资助
关键词 假黄榴 弹性纤维/遗传学 突变 pseudoxanthoma elasticum/genetics mutation
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