一例大前庭水管综合征患儿的SLC26A4基因突变研究  

Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome

作　　者：孙东兰[1] 穆卫红[1] 张艳华[1] 高虹[1] 方芳[1] 于湄[1] 赵丽娟[1] 张静[1] 米冬青[1] 常立甲[1] 曹琴英[1] 

机构地区：[1]石家庄市第四医院产前诊断中心,050011

出　　处：《中华医学遗传学杂志》2017年第3期390-392,共3页Chinese Journal of Medical Genetics

摘　　要：目的对1例大前庭水管综合征患儿进行SLC26A4基因突变位点分析，以明确其突变类型和突变形式，并探讨其突变来源和传递规律。方法收集大前庭水管综合征患儿及其父母的临床资料及血样，提取基因组DNA，聚合酶链反应进行SLC26A4基因的全序列扩增，扩增产物纯化后测序。应用Sequencing Analysis Software等软件进行生物信息学分析、比对。结果测序结果提示患儿为SLC26A4 c．1522A〉G和c．1229C〉T的复合杂合突变，父亲为SLC26A4 c．1522A〉G杂合突变，母亲为SLC26A4 1229C〉T杂合突变。结论SLC26A4 c．1522A〉G变异可能是该患儿的致病基因突变，本研究结果对于该家庭的再生育及患儿将来的婚育有指导意义。Objective To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome. Methods Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing. Results The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c. 1522A〉G and e. 1229C2〉T, which were inherited from her father and mother, respectively. Conclusion SLC26A4 c. 1522A〉G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.

关 键 词：大前庭水管综合征 SLC26A4基因 基因型 复合杂合突变 

分 类 号：R440[医药卫生—诊断学] R764[医药卫生—临床医学]