摘要目的 探讨1个Ⅰ型遗传性球形红细胞增多症(hereditary spherocytosis,HSⅠ)家系的遗传学病因.方法 收集先证者及其直系血亲的外周血,提取基因组DNA,应用高通量测序技术分析相关基因的序列,对发现的可疑致病变异采用Sanger测序法进行验证.结果 在先证者ANK1基因的第2外显子编码区检出1个新的杂合性移码缺失(c.247delG:p.His83Ser fs*3).Sanger测序证实了该突变的存在,并在先证者父亲及哥哥中检出了相同的突变.结论 ANK1基因编码区c.247delC移码突变很可能是该HSⅠ家系的致病原因.

abstractsObjective To detect the disease-causing mutation in a family with hereditary spherocytosis type Ⅰ.Methods Genomic DNA was extracted from peripheral blood samples of the proband and his relatives.Next-generation sequencing was used to detect the mutations of relevant genes.Suspected pathogenic mutation was verified by Sanger sequencing.Results The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene,which has resulted in abnormal structure or function of the protein.The mutation was confirmed by Sanger sequencing,with both his father and brother found to have carried the same mutation.Conclusion The c.247delG mutation of proband hereditary spherocytosis type Ⅰ in this family due to mutation of the ANK1 gene.