摘要
目的本研究旨在对1例Waardenburg综合征患者的临床症状和致病基因的分析,为患者胎儿产前诊断提供依据。方法抽取患者的外周血,应用全外显子组测序技术进行检测。取先证者羊水标本、家系成员外周血标本,对可疑基因突变进行Sanger测序验证。结果确定为MITF基因发生突变,其位于3号染色体exon6外显子:c.632T>C,该突变为nonsynonymous SNV突变,导致氨基酸改变p.L211P。Sanger测序验证其家系,先证者父亲和先证者的胎儿为野生型,先证者母亲与弟弟为杂合突变。结论全外显子组测序技术可以高效准确地对WS患者进行基因分析及产前诊断。
Objective The purpose of this study was to analyze the clinical symptoms and pathogenic genes of a patient with Waardenburg syndrome and to provide the basis for prenatal diagnosis of the patient.s fetus.Methods The peripheral blood of the patients were extracted and detected by whole exon sequencing technique.The amniotic fluid samples of the proband and peripheral blood samples of family members were taken,and the suspected gene mutations were verified by Sanger sequencing.Results It was confirmed that MITF gene mutation,located in exon6 exon of chromosome 3:c.632T>C,was nonsynonymous SNV mutation,resulting in amino acid change p.L2111P.Sanger sequencing verified the pedigree,the father and the fetus of the proband were wild-type,and the mother and brother were heterozygous mutations.Conclusion Whole exome sequencing technology can efficiently and accurately perform genetic analysis and prenatal diagnosis for WS patients.
作者
单群达
雷永良
刘姣
陈鹏龙
罗霞
吴菁菁
SHAN Qun-da;LEI Yong-liang;LIU Jiao;CHEN Peng-long;LUO Xia;WU Jing-jing(Prenatal Diagnostic Center,Lishui Maternity and Child Health Care Hospital,Lishui,Zhejiang 323000,China)
出处
《中国卫生检验杂志》
CAS
2022年第5期552-554,共3页
Chinese Journal of Health Laboratory Technology
基金
丽水市重点研发计划项目(2020ZDYF13)
丽水市科技计划项目(2021SJZC053)。
