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七例Waardenburg综合征患者基因突变分析 被引量：4

Mutation analysis of seven patients with Waardenburg syndrome
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摘要 目的对7例Waardenburg综合征患者的MITF、PAX3、SOXl0和sNA砣基因进行突变分析，为该病的基因诊断提供分子遗传学依据。方法应用Sanger测序检测MITF、PAX3、SOⅪ0和SNA陀基因的全部外显子，并用Polyphen2预测非同义SNP对蛋白质功能的影响。结果共检测到7个突变位点，分别为c．649—651delAGA（p．R217del）、c．72delG（p．G24{s）、c．185T〉C（p．M62T）、c．118C〉T（p．Q40X）、c．422T〉c（p．L141P）、C．640C〉T（p．R214x）和c．128G〉T（p．G43V）。其中，MITF基因的c．649—651delAGA（p．R217del）和c．640C〉T（p．R214X）突变位点为已报道的，PAX3基因的c．72delG（p．G24fs）、c．185T〉C（p．M62T）、c．118C〉T（p．Q40X）、c．128G〉T（p．G43V）突变和SOX10基因c．422T〉C（p．L141P）突变为未见报道的新突变。非同义SNP c．185T〉C（p．M62T）、c．128G〉T（p．G43V）和c．422T〉c（p．L141P）均考虑为有害突变。结论对Waardenburg综合征患者的基因突变分析结果丰富了Waardenburg综合征致病基因的突变谱，为明确病因提供了重要依据。 Objective To perform genetic analysis for 7 patients with Waardenburg syndrome. Methods Potential mutation of MITF, PAX3, SOXIO and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisrns were predicted with Polyphen2 software. Results Seven mutations, including c. 649-651delAGA （p. R217del）, c. 72delG （p. G24fs）, c. 185T〉C （p. M62T）, c. 118C〉T （p. Q40X）, c. 422T〉C （p. L141P）, c. 640C〉T （p. R214X） and c. 28G〉T （p. G43V）, were detected in the patients. Among these, four mutations of the PAX3 gene （c. 72delG, c. 185T〉C, c. 118C〉T and c. 128G〉T） and oneSOXlO gene mutation （c. 422T〉C） were not reported previously. Three non-synonymous SNPs （c. 185T 〉 C, c. 128G〉 T and c. 422T 〉 C） were predicted as harmful. Conclusion Genetic mutations have been detected in all patients with Waardenburg syndrome.
作者 郝予琪 周永安 李鹏丽 张全斌 李娇 王鹏飞 栗向韶 冯永
机构地区 山西省太原市中心医院中心实验室 山西省太原市中心医院耳鼻喉科 中南大学湘雅医院耳鼻喉科
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2016年第3期312-315,共4页 Chinese Journal of Medical Genetics
基金 太原市科技局社会发展科技计划资助项目（11016209） 太原市中心医院院级科研项目（12125-39）
关键词 WAARDENBURG综合征 MITF基因 PAX3基因 SOX10基因 基因突变 Waardenburg syndrome MITF gene PAX3 gene SOX10 gene Gene mutation
分类号 R596.1 [医药卫生—内科学]
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参考文献10

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二级参考文献33

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中华医学遗传学杂志
2016年 第3期

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