用Ion Torrent半导体测序技术对血友病B家系F9基因行突变分析及产前诊断  

Mutational analysis of F9 gene by Ion Torrent sequencing and prenatal diagnosis for in hemophilia B

作　　者：刘安 马定远[1] 刘刚[1] 林颖[1] 李璃[1] 许争峰[1] 钟天鹰[2] LIU An;MA Dingyuan;LIU Gang;LIN Ying;LI Li;XU Zhengfeng;ZHONG Tianying(Center of Prenatal Diagnosis,The Affiliated Obestetrics and Gynecology Hospital of Nanjing Medical University,Nanjing Maternity and Child Health Care Hospital,Nanjing 210004,Jiangsu,China;Department of Clinical Laboratory,The Affiliated Obestetrics and Gynecology Hospital of Nanjing Medical University,Nanjing Maternity and Child Health Care Hospital,Nanjing 210004,Jiangsu,China)

机构地区：[1]南京医科大学附属妇产医院&南京市妇幼保健院产前诊断中心,南京210004 [2]南京医科大学附属妇产医院&南京市妇幼保健院检验科,南京210004

出　　处：《临床检验杂志》2021年第9期641-645,共5页Chinese Journal of Clinical Laboratory Science

摘　　要：目的用Ion Torrent半导体测序技术对11个血友病B(HB)家系的F9基因进行序列分析,寻找致病突变,并为遗传咨询和产前诊断提供依据。方法采集11个HB家系先证者及女性成员的外周血样本,抽提基因组DNA,利用Ion Torrent半导体测序技术检测F9基因致病突变,对发现的致病突变进行Sanger测序验证。进一步对7例高危家系孕妇进行羊膜腔穿刺,采集胎儿羊水样本,并进行产前诊断。结果13例HB患者均存在F9基因致病性突变,共发现10种突变,其中1种为新的突变类型。对8例胎儿进行产前诊断,其中1例为半合子突变,2例为杂合突变,5例不携带母源致病突变。结论用Ion Torrent半导体测序技术检测F9基因的突变谱,对于HB家系携带者的产前诊断具有一定的临床意义。Objective To sequence F9 gene in 11 pedigrees with hemophilia B by Ion Torrent semiconductor sequencing technology to analyze and detect pathogenic mutations to provide evidences for genetic counselling and prenatal diagnosis.Methods The peripheral blood samples were collected from probands and female family members,and genomic DNA was extratced and subjected to Ion Torrent sequencing analysis for pathogenic mutations of F9 gene.The identified pathogenic F9 gene mutations were confirmed by Sanger sequencing analysis.Furthermore,amniocentesis was performed in 7 pregnant women from high-risk families and the amniotic fluid samples were colletced for prenatal diagnosis.Results In total,we identified 10 pathogenic F9 gene mutations from 13 hemophilia B patients,among which one was novel mutation type that had not been reported before.The resuts of prenatal diagnosis for 8 of the fetuses showed that one fetus was hemizygous mutation,two were heterozygous and five were wild type without pathogenic mutations from maternal source.Conclusion Ion Torrent semiconductor sequencing technology in detection of mutation spectrum of F9 gene shows a certain clinical significance for the prenatal diagnosis of hemophilia B family carriers.Our study not only provides evidencees for genetic counselling and prenatal diagnosis,but also expands the mutational spectrum of F9 gene.

关 键 词：血友病B F9基因 基因突变 产前诊断 

分 类 号：R446[医药卫生—诊断学]