[Analysis of ANK1 Gene Mutation in a Family with Hereditary Spherocytosis Type Ⅰ].
openalex(2019)
摘要
OBJECTIVE: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 typeⅠin this family due to mutation of the ANK1 gene..
更多查看译文
关键词
Hereditary spherocytosis,ANK1 gene,Mutation,Targeted sequence capture,Next-generation sequencing
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要