摘要血友病B是凝血因子Ⅸ基因突变引起血浆FⅨ量的缺乏或质的缺陷所导致的一种X连锁隐性遗传性出血性疾病,在男性中的发病率约为1/30 000,是一种严重危害人民健康的疾病.由于经济等方面的原因,我国血友病的防治与发达国家相比存在很大差距.目前尚缺乏针对本病的根治措施,故开展基因诊断及携带者检出无疑是防止新的患儿出生、阻断有害基因传递、提高人口素质的一个有效手段.
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abstractsThe haemophilia B(HB)is caused by the mutations in the factⅨ gene, and is known as an X-linked recessive disease. At present, due to lacking of the eradicative therapy, the gene diagnosis and detection of the carriers is an effective method to prevent the infant patients to be born, block the transmission of harmful gene, and improve the population quality. This should be actively encouraged for its pratical usefulness.
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