A new ANK1 gene mutation in a newborn with hereditary spherocytosis

来源 :第五届上海国际新生儿医学论坛 | 被引量 : 0次 | 上传用户：sunhaifeng112

【摘要】

：

【作者】

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Min Jiang Jie Lu Yan Zhong Yajuan Wang Caiyun Yang

【机构】

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Beijing Children's Hospital, Capital Medical University

【出处】

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第五届上海国际新生儿医学论坛

【发表日期】

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2015年9期

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Objective To determine the disease-causing mutation in a newborn with hereditary spherocytosis(HS).MethodsGenomic DNA was extracted from peripheral blood samples of HS patient and his parents.second-generation sequencing was used to analysis the related gene.Polymerase chain reaction (PCR)was used to amplify the suspected virulence gene,verificating by first-generation sequencing.

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A new ANK1 gene mutation in a newborn with hereditary spherocytosis

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