一Peutz-Jeghers 综合征家系致病位点分析及产前基因检测  

The pathogenetic sites analysis and prenatal gene testing of the family with Peutz-Jeghers syndrome

作　　者：赵亚松 吕远[2] 李闯 张志涛[2] 陈浩暘[1] Zhao Yasong;Lyu Yuan;Li Chuang;Zhang Zhitao;Chen Haoyang(The First Delivery Room,Key Laboratory of Maternal Fetal Medicine of Liaoning Province,Shengjing Hospital Afiliated to China Medical University,Shenyang Liaoning 110004,P.R.China;Department of Gynecology&Obstetries,Key Laboratory of Maternal Fetal Medicine of Liaoning Province,Shengjing Hospital Afiliated to China Medical University,Shenyang Liaoning 110004,P.R.China)

机构地区：[1]中国医科大学附属盛京医院第一分娩室,辽宁沈阳110004 [2]中国医科大学附属盛京医院妇产科,辽宁省母胎医学重点实验室,辽宁沈阳110004

出　　处：《中国计划生育和妇产科》2021年第7期94-96,共3页Chinese Journal of Family Planning & Gynecotokology

基　　金：国家自然科学基金(项目编号:81701462);辽宁省产科疾病临床医学研究中心及协同网络建设(项目编号:2016007014)。

摘　　要：目的通过高通量测序技术明确Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)家系的基因突变位点,并根据该突变位点进行产前基因检测。方法详细询问先证者临床表现及家族史,抽取先证者外周血行全外显子测序筛查相关基因变异位点,并应用Sanger测序对变异位点进行验证。于妊娠中期抽取先证者妻子羊水并提取胎儿游离DNA,应用Sanger测序明确胎儿是否携带与先证者一致的基因变异。结果先证者携带STK11基因c.95delC(p.Thr32fs)杂合突变,Sanger测序验证结果与高通量测序结果一致,该突变位点为该家系致病原因。先证者妻子羊水检测结果提示胎儿携带有与先证者相同的基因突变位点。结论本研究通过高通量测序技术明确了一PJS家系的致病位点,为先证者及其家属的遗传咨询及产前基因诊断提供了依据。Objective Identify the gene mutation site in the family with Peutz-Jeghers syndrome(PJS)by high-throughput sequencing technology,and perform prenatal genetic testing according to the mutation sites.Methods The clinical manifestations and family history of the proband were asked in detail.The genes mutation sites were screened by the whole-exon sequencing,and the mutation sites were verified by Sanger sequencing.Amniotic fluid of the wife of the proband was extracted in the second trimester of pregnancy then fetal free gene DNA was extracted.Results The proband carried the heterozygous mutation:c.95 delC(p.thr32 fs)in STK11 gene.The Sanger sequencing results were consistent with the high-throughput sequencing results,the mutation site was the cause of the disease in the family.Amniotic fluid test of the wife of the proband suggested that the fetus carried the same genetic mutation site as the proband.Conclusion This study identified the pathogenic sites of the family with PJS by high-throughput sequencing technology which provided the basis for genetic counseling and prenatal gene diagnosis of proband and their families.

关 键 词：全外显子测序 STK11基因 PEUTZ-JEGHERS综合征 产前基因检测 

分 类 号：R596[医药卫生—内科学]