摘要
应用DNASouthern印迹法,检测66例血友病甲患者。发现22例有凝血因子VIII(FVIII)基因内含子22的倒位,占33.3%;在66例患者中,47例为重型,有倒位重组的患者均为重型,占重型患者的46.8%。表明由倒位机制引起的重型血友病甲在中国人群中其发病率是较高的。因此对本病的发病机制、携带者检测和产前诊断具有重要理论和应用意义。
y using southern blot analysis, 22 of 66 (33. 3%)hemophilia A patients were found to have inversionsbetween intronic gene A in intron 22 of FVIII gene andeither of the two gene A located 500kb upstream toFVIII gene. Inversion of intron 22 was observed onlyin severe cases. As the incidence of this event was ashigh as 46. 8% in severe hemophilia A patients, itmight be a common cause of hemophilia A in Chinese.In addition, the detection of intron 22 inversion mightbe a useful tool for carrier detection and prenatal diag-nosis.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1995年第9期454-456,共3页
Chinese Journal of Hematology
基金
国家自然科学基金
上海市高教局项目
上海血液学研究所胡应洲基金