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SOX10新突变致Waardenburg综合征Ⅱ型家系基因突变研究 被引量：2

Study on family gene mutation of type Ⅱ Waardenburg syndrome induced by SOX10 new mutation
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摘要 目的通过对Waardenburg综合征II型(WSⅡ型)一家系临床分析和候选基因的突变检测,丰富了WSⅡ型的基因突变谱,并探讨WSⅡ型的分子遗传学特征。方法问卷式采集1个WSⅡ型家系的临床资料,绘制家系图谱,签署知情同意书并获取先证者及一级亲属的血样。通过聚合酶链反应(Polymerase chainreaction,PCR)扩增SOX10、SNAI2、PAX3、MITF、EDNRB和EDN3候选基因编码区的所有外显子。相应扩增产物酶切后进行测序,利用Mutation Surveyor 4.0软件及分子生物学网站的信息分析数据。结果根据患者及其母亲的临床表现和相关检查结果结合WSⅡ的诊断标准,为WSⅡ型;家系中SNAI2、PAX3、MITF、EDNRB和EDN3基因检测未发现突变;在家系先证者及母亲的SOX10基因的编码区发现了一个国内外尚未报道过的新突变SOX10(c.482del GTAGC),而在家系其他成员中均未发现此突变。结论此次研究对WSⅡ型一家系进行临床分析和基因突变研究,所发现的SOX10(c.482del GTAGC)基因突变国内外尚未见报道,属新突变;不仅丰富了人类基因突变数据库,而且为Waardenburg综合征的病因学研究和临床研究提供了有利资料。 Objective To replenish gene mutation spectrum of typeⅡ Waardenburg syndrome and explore the molecular genetic fea- tures of type Ⅱ Waardenburg syndrome by conducting clinical analysis on type Ⅱ Waardenburg syndrome family and mutation detection of candidate genes. Methods The clinical data of one family of typeⅡ Waardenburg syndrome was collected by questionnaire interview, the family mapping was drawn, the informed consent form was signed, the blood samples of proband and first-degree relatives were obtained. PCR was used to amplify all the cxons in coding region of candidate genes （ SOXIO, SNAI2, PAX3, MITF, EDNRB, and EDN3 ） . Gene sequencing was conducted after digestion of corresponding amplification products. Mutation Surveyor 4. 0 software and molecular biological websites were used for data analysis. Results The patient was diagnosed as typeⅡ Waardenburg syndrome definitely according to the clini- cal manifestations of the patient and the patient＇s mother, related examination results, and the diagnostic criteria. No gene mutation was found in SNAI2, PAX3, MITF, EDNRB, and EDN3 genes in the family, a new mutation SOX10 （c. 482delGTAGC） never reported at home and abroad was found in coding regions of SOX10 genes from the proband and patient＇s mother, which was not found among other family members. Condusion The study found a new gene mutation： SOX10 （c. 482delGTAGC） , which not only enriches human gene mutation database, but also provides beneficial information for etiological study and clinical research of Waardenburg syndrome.
作者 宋学东 陈丁莉 李守霞 郭丽丽 张小芳
机构地区 邯郸市中心医院检验科
出处 《中国妇幼保健》 CAS 2016年第19期4000-4003,共4页 Maternal and Child Health Care of China
基金 河北省卫生厅项目(20130353) 邯郸市科学技术研究与发展计划项目(1323108125)
关键词 Waardenburg综合征Ⅱ型 SOX10基因 基因突变 Type ⅡWaardenburg syndrome SOXIO gene Gene mutation
分类号 R394.34 [医药卫生—医学遗传学]
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参考文献11

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二级参考文献29

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共引文献15

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中国妇幼保健
2016年 第19期

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