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血友病A是伴X连锁隐性遗传病,其病因是由于位于X染色体上的编码凝血因子FⅧ基因缺陷导致机体凝血机制紊乱而出血不止,严重危害患者的身体健康和生命安全。血友病A可通过直接法和间接法检测进行诊断,对血友病A携带者可于孕早期进行有创或无创的胎儿遗传学诊断,行辅助生殖的携带者可于胚胎植入前遗传学诊断(PGD)。对血友病A的基因治疗目前尚处于动物研究阶段,主要通过基因转移载体来实现提高机体FⅧ的分泌,其最珍贵的靶细胞是造血干细胞,有望不久的将来更好地服务于血友病患者及携带者。
Hemophilia A is associated with X-linked recessive genetic disease, the etiology is due to defects in the X-chromosome encoding factor F Ⅷ gene lead to the body coagulation disorders and bleeding more than serious harm to the patient’s health and safety of life. Hemophilia A can be diagnosed by both direct and indirect tests. Hemophilia A carriers can be given an invasive or noninvasive fetal genetic diagnosis during the first trimester and carriers of assisted reproduction can be preimplantation Learn to diagnose (PGD). The gene therapy of hemophilia A is still in the stage of animal studies, mainly through the gene transfer vector to improve the body’s secretion of F Ⅷ, the most precious target cells are hematopoietic stem cells, is expected to better serve the hemophilia in the near future Patients and carriers.