Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially di

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户：kenshin578212121

【摘要】

：

　　Purpose: Genomic mutations in about 200 genes are associated with hereditary retinal diseases.In this study, we screened for the disease-causing gene mutati

【作者】

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HuiGuo[1]Ji-shengLi[2]FeiGao[3]Jiang-xiaLi[3]Qi-jiLiu[3]

【机构】

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Department of Ophthalmology, Qilu hospital of Shandong University, Jinan, China

【出处】

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第十四次全国医学遗传学学术会议

【发表日期】

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2015年期

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　　Purpose: Genomic mutations in about 200 genes are associated with hereditary retinal diseases.In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease.Methods: Pedigree data were collected and genomic DNA was isolated from peripheral blood of family members,who also underwent comprehensive ophthalmic examination including visual acuity,slit-lamp examination, fundus examination and visual field testing at Qilu Hospital of Shandong University.

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Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially di

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