血友病B的基因诊断

血友病B是凝血因子Ⅸ(FⅨ)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,男性发病,其发病率约为1/30000,严重危害人们的健康。由于目前对血友病B尚无根治措施,因此进行基因诊断及携带者检出是防止新的患儿出生、阻止致病基因传递、提高人口素质的一种有效方法。现对血友病B的基因诊断的发展进行综述。

Genetic Diagnosis of Hemophilia B

Hemophilia B(HB),which is caused by the mutations in factor Ⅸ gene,is known as an Xlinked recessive disease and occurs in about 1 /30 000 male live births.At present,due to the lack of the eradication therapy,the genetic diagnosis and detection of the carriers are effective methods to prevent the birth of defective infants,block the transmission of harmful gene and improve the population quality,worthwhile actively carrying out.The article intends to review the developments in genetic diagnosis of haemophilia B.