血友病A论文：血友病A内含子22及内含子1倒位的检测及其意义

由天下分享时间：2025/1/5 13:32:26 加入收藏我要投稿点赞

【中文摘要】（1）通过检测血友病A（hemophiliaA，HA）患者凝血因子Ⅷ基因内含子22及内含子1倒位的发生率，改进并完善血友病内含子22倒位及内含子1倒位的实验室检测方法；（2）探讨其与FⅧ抑制物产生的相关性。方法：（1）选取130例经一期法检测FⅧ:C确诊的HA患者，其中重型（FⅧ:C≤1）91例，中型(1

关报道，内含子22倒位的发生率与国外报道相近。

【英文摘要】:(1) The study was aimed to improve and consummate the detection of the intron 22 inversionand intron 1 inversion in hemophilia A(HA) patients by test the incidence rate of intron 1inversion and intron 2 inversion in patients with HA;(2) To preliminarily investigate the correlation between the intron inversion and FⅧinhibitor.Methods:(1) Totally 130 HA patients whose FⅧ:C activity were measured by one-stage coagulationassay were enrolled. There were 91 severe patients, 13 moderate patients and 26 wild patientsamong the HA patients.FⅧinhibitor was screened by Bethesda method .(2) 130 patients were directly detected by multiplex PCR method for intron 1 inversion, 71patients were detected by long-distance PCR method for inversion 22 among the

130patients.Results:(1)Among the 130 patients, 6 patuents were found that have inhibitors which accounted for4.6 percents of all the patients,all of the 6 patients were severe patients which accounted for6.5 percents of severe patients .The Bethesda units of the patients are 2.3,3.6,24.4,32,121.6and 345.6.(2) In 130 unrelated patients,2 severe patients were found intron 1 inversion which accountedfor 1.5 percents of 130

patients and 2.2 percents of 91 severe patients.(3)18 patients were found intron 22 inversion among the 71 patients, that the incidence ratewas 23.9 percents. There were 34 severe HA patients in the 71 patients, 16 patients werefound intron 22 inversion positive which accounted for 47.1 percents of total 34 severepatients.Conclusions:(1) The incidence rate of inhibitors of this group patients was lower than the rate which wasreported by the foreign literatures.(2)The incidence rate of intron 22 inversion of this group patients was close to the rate whichwas reported by the foreign literatures. But the rate of the intron 1 inversion was lower thanthe rate of the foreigners.

【关键词】血友病A FVIII抑制物内含子22 内含子1 倒位【英文关键词】Hemophilia A FactorⅧInhibitor Intron 1 Intron 22 Inversion

【目录】血友病A内含子22及内含子1倒位的检测及其意义主要缩略词表5-6

摘要6-7

Abstract7

前言8-10

第一

部分血友病 A 患者因子Ⅷ抑制物筛查与分析10-1710-15

结果15-16

讨论16-17

材料与方法

第二部分血友病 A 患者基

材料与方法参考文献