期刊简介
本学报是以反映首都医科大学各院、系、所及10任所附属、教学医院的科研成果为主的高级综合性学术期刊。季刊，国内外公开发行。主要栏目有论著、经验介绍、技术·方法、综述等。
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首页>首都医科大学学报杂志
- 杂志名称：首都医科大学学报杂志
- 主管单位：北京市教育委员会
- 主办单位：首都医科大学
- 国际刊号：1006-7795
- 国内刊号：11-3662/R
- 出版周期：双月刊
期刊荣誉：全国优秀科技期刊三等奖（第二届）期刊收录：维普收录(中), 万方收录(中), 上海图书馆馆藏, 知网收录(中), CA 化学文摘(美), 国家图书馆馆藏, 统计源核心期刊(中国科技论文核心期刊)
关键词：hemophilia A, factor Ⅷ, inversion, intron 22
摘要：Objective Hemophilia A, an X-linked bleeding disorder, affecting 1 in 5 000 males is caused by heterogeneous mutations in factor Ⅷ gene. Inversion mutation in intron 22 of F8C gene remains its leading cause. The aim of this study was to evaluate the frequency and distribution of the intron 22-inversion mutation in the patients and in the family members in the region. Methods 29 hemophilia A patients from Jammu and Kashmir (20 severe, 8 moderate and 1 mild) were analyzed for intron 22-inversion mutation. Results 11 (38%) were positive for the distal type of inversion mutation. The mutation was found in 9/20 (45%) patients with severe factor Ⅷ deficiency and 2/8 (25%) with moderate severity hemophilia A, whereas the patient with mild hemophilia A was found to be negative for inversion mutation. Evaluation of twenty-six female relatives from 11 families of inversion mutation positive patients identified one mother and one sister from one family to be the carrier, suggesting its origin in the mother. Conclusion The present study confirms the intron-22 inversion mutation in F8C gene as the major cause of hemophilia A in the population from Jammu and Kashmir with a higher frequency of inversion mutation in sporadic cases compared to the familial cases.
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