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血友病是一组古老的遗传性出血性疾病,它是由于血液中某些凝血因子的缺乏而导致的严重凝血功能障碍。根据缺乏的凝血因子不同可分为甲型血友病(凝血因子Ⅷ缺乏症或抗血友病球蛋白缺乏症)、乙型血友病(凝血因子Ⅸ缺乏症或Christmas病)及丙型血友病(凝血因子Ⅺ缺乏症)。前二者为性连锁隐性遗传,后者为常染色体不完全隐性遗传。这三型血友病中,甲型和乙型血友病发病率较高,病情较重,同时也缺乏有效的治疗方法,因此一直是人们重点研究的遗传病。近年来,在血友病的分子遗传学研究方面取得了重大突破。凝血因子Ⅷ和Ⅸ
Hemophilia is a group of ancient hereditary hemorrhagic diseases, it is due to the lack of certain blood clotting factor caused by severe coagulation disorders. Depending on the lack of clotting factor can be divided into hemophilia A (factor â ... § deficiency or anti-hemophilia globulin deficiency), hemophilia â ... ¡(coagulation factor â ... ‰ deficiency or Christmas disease) and C blood Friendship disease (coagulation factor Ⅺ deficiency). The former two are sex recessive inheritance, the latter are autosomal recessive inheritance. Among the three types of hemophilia, the incidence of type A and type B haemophilia is high, their condition is serious, and there is also a lack of effective treatment methods. Therefore, it has been a genetic disease that has been mainly studied by people. In recent years, major breakthroughs have been made in molecular genetics research on hemophilia. Factor VIII and IX