一例致病机制不明甲型血友病家系的植入前检测  

The PGT for a hemophilia a family with unclear pathogenesis mechanism

作　　者：于海华 肖龙 曹东华 YU Hai-hua;XIAO Long;CAO Dong-hua(Dalian Maternal and Child Health Care Hospital,Dalian,Liaoning 116033,China)

机构地区：[1]大连市妇幼保健院

出　　处：《中国优生与遗传杂志》2018年第12期120-122,112,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对一致病机制不明的甲型血友病家系进行胚胎植入前遗传学检测,以降低该家系生育患儿的风险。方法应用测序、F8基因的1号和22内含子倒位检测及MLPA检测等手段检测已生育甲型血友病患儿的女性。应用植入前检测的方法选择染色体正常的女性胚胎植入并进行产前诊断及随访。结果在已生育甲型血友病患儿的女性外周血样本中检测到F8基因意义未明突变,其它检测未见异常。根据胚胎植入前检测结果,为该女性移植一枚染色体正常的女性胚胎,产前诊断及生后随访确认胎儿为非甲型血友病女性。结论本研究未能明确该家系致病位点,但由于甲型血友病为X连锁隐性遗传病,在对患者充分知情告知并同意后,可应用植入前检测的方法选择女性胚胎移植,以最大限度降低后代患病风险。Objective:Preimplantation genetic testing was performed on hemophilia A families with unknown pathogenic mechanism in order to reduce the risk of offspring. Methods:Sequencing,intron 1 and 22 inversion test of F8 gene and MLPA test were used to detect the women who has two hemophilia A babies. Pre-implantation test was used to select female embryos with normal chromosomes,carry out prenatal diagnosis and survey the baby after birth. Results:The F8 gene mutation whose pathogenesis is unclear was detected in the peripheral blood samples of the women who had given birth to hemophilia A. According to the results of pre-implantation testing,a female embryo with normal chromosome was transplanted to the female,and the fetus was confirmed as a non-hemophilia female by prenatal diagnosis and postnatal follow-up. Conclusion:This study failed to identify the pathogenic site of the pedigree. However,as hemophilia A is a X-linked recessive genetic disease,after informed consent female,embryo transfer can be selected by the method of pre-implantation detection to minimize the risk of disease in the offspring.

关 键 词：甲型血友病 致病原因不明 PGT 女性胚胎 

分 类 号：R554.11[医药卫生—血液循环系统疾病]