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INT J LAB HEMATOL:中国南方A型血友病的遗传诊断:五个新突变和一个植入前遗传分析

2017-04-21 MedSci MedSci原创

由于目前尚未完全治愈A型血友病(HA),因此鉴定HA患者和携带者的VIII(FVIII)基因的病原性突变,将有助于产前诊断遗传咨询和植入前遗传诊断(PGD),也是是防治A型血友病的重要措施。

近日,国际杂志INT J LAB HEMATOL上在线发表一篇关于利用五个新突变和一个植入前遗传分析对中国南方A型血友病的遗传诊断的研究。

由于目前尚未完全治愈A型血友病(HA),因此鉴定HA患者和携带者的VIIIFVIII)基因的病原性突变,将有助于产前诊断遗传咨询和植入前遗传诊断(PGD),也是是防治A型血友病的重要措施。

该研究共纳入非14HA患者(FVIII活性<40%),20例携带者,3例胎儿和1PGD。研究人员首先筛查FVIII内含子22和内含子1倒置的存在。其次,对FVIII基因的编码区进行测序。对于新突变,通过实时PCR检测FVIII mRNA表达,并通过生物信息学工具分析蛋白质结构。

研究发现了五个新突变(c.1A> Cc.304_305insAc.1594T> Ac.6045G> Ac.2645_2646insG)。实时PCR显示HA患者FVIII mRNA的表达低于正常人。产前诊断和PGD成功实施:三胎胎儿中有两胎和八个卵球囊中的四个经确认为正常。

总之,研究人员认为该研究中成功地对14个非HA受试者,20个携带者,3个胎儿和1PGD进行了遗传诊断。

原始出处:

J. Chen, J. Wang, X. Y. Lin. et.al. Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis. (pages 191–201) Version of Record online: 21 NOV 2016 | DOI: 10.1111/ijlh.12602

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    2017-04-22 fengyi812
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    2017-04-22 jiyangfei

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