摘要目的 确定1例新生儿遗传性球形红细胞增多症的基因突变.方法 收集患儿及其父母的外周血,提取基因组DNA,用高通量测序技术分析相关基因的序列.对发现的可疑致病突变采用Sanger 测序法进行验证.结果 在患儿ANK1基因的编码区检出一个杂合性插入突变(g.834_833ins C),其造成了基因的开放阅读框移码,导致蛋白质翻译提前终止,造成蛋白功能丧失.结论 ANK1基因编码区834至833位间插入碱基C的突变是本例患儿的可疑致病原因.

abstractsObjective To determine the disease-causing mutation in a newborn with hereditary spherocytosis.Methods Genomic DNA was extracted from peripheral blood samples of the patient and her parents.Next-generation sequencing was used to analyze the related genes.Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.Results An insertional mutation g.834 _833insC was identified in the coding region of ankyrin-1 (ANK1)gene,which has caused a frame shift,resulting premature termination of protein translation.Conclusion The hereditary spherocytosis in the neonate was probably due to the g.834 _833insC mutation of the ANK1 gene.