Jiang Min, Lu Jie, Zhong Yan, Wang Yajuan, Yang Caiyun
Neonatal Center, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):44-7. doi: 10.3760/cma.j.issn.1003-9406.2016.01.011.
To determine the disease-causing mutation in a newborn with hereditary spherocytosis.
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.
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.
The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.
确定一名患有遗传性球形红细胞增多症新生儿的致病突变。
从患者及其父母的外周血样本中提取基因组DNA。采用二代测序分析相关基因。通过聚合酶链反应和桑格测序验证疑似致病突变。
在锚蛋白-1（ANK1）基因编码区鉴定出一个插入突变g.83４_833insC，该突变导致了移码，从而使蛋白质翻译提前终止。
该新生儿的遗传性球形红细胞增多症可能是由ANK1基因的g.834_833insC突变所致。
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