摘要
目的对1例Waardenburg综合征Ⅱ型先证者及其家系成员进行SOX10基因的突变分析，探讨其可能的分子生物学致病原因。方法抽提先证者及其家系成员的外周血基因组DNA，芯片捕获高通量测序方法对MITF、PAX3、SOX10、SNA12、END3和ENDRB基因的全部外显子及其侧翼序列进行检测。根据高通量测序结果，对先证者及其父母进行突变位点的Sanger测序验证分析。结果Sanger测序结果显示先证者存在SOX10C．127c〉T（P．R43X）杂合突变，导致SOX10基因第43位编码精氨酸的密码子（CGA）突变为终止密码子（UGA），产生截短蛋白，影响蛋白质功能的正常发挥。经检索人类基因突变数据库，该突变为未报道过的新突变。患儿父母未检测到该突变。结论先证者SOX10基因C．127c〉T（P．R43X）杂合突变可能是其分子生物学致病原因。
Objective To detect potential mutation of SOXIO gene in a pedigree affected with Warrdenburg syndrome type Ⅱ. Methods Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITE, PAX3, SOXIO, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. Results A c. 127 C〉T （p. R43X） mutation of the SOXIO gene was detected in the proband, for which both parents showed a wild-type genotype. Conclusion The c. 127 C〉T （p. R43X） mutation of SOXIO gene probably underlies the ocular symptoms and hearing loss of the proband.
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第1期81-83,共3页
Chinese Journal of Medical Genetics
