血友病A患者凝血因子Ⅷ基因内含子1倒位的检测
闫振宇;梁燕;闫梅;范连凯;肖白;华宝来;刘敬中;赵永强
【期刊名称】《中华医学杂志》 【年(卷),期】2008(088)038
【摘要】目的 检测中国血友病A(HA)患者中凝血因子Ⅷ(FⅧ)基因内含子1倒位(inv1)的发生频率,并和国外相关资料相比较,明确部分中国HA患者的发病机制.方法 用一期法检测158例无关家系HA患者的FⅧ活性(FⅧ:C),进行HA表型诊断;分别采用长距离和双管多重PCR技术检测内含子22倒位(inv22)和invl;直接测序法进行FⅧ基因全长序列分析.结果 在158例无关家系的HA患者中发现有2例(家系)invl阳性,检出率为1.26%;对其中1例阳性患者家系进行调查,发现1例罕见女性HA患者为invl携带者.对女性患者另一条染色体FⅧ基因进行全长测序,未发现有新基因突变.结论 invl在中国HA人群中发生率相对较低.女性HA患者为inv1杂合子,其发病考虑为与X染色体非随机失活有关.%Objective To investigate the frequency of intron 1 inversion (inv1) in FⅧ gene in Chinese hemophilia A (HA) patients and to investigate the mechanism of pathogenesis. Methods Peripheral blood samples were collected from 158 unrelated HA patients, aged 20 (1-73), including one female HA patient, aged 5, and several family members of a patient positive in invl. One-stage method was used to assay the FⅧ activity (FⅧ:C). Long distance PCR and multiple PCR in duplex reactions were used to screen for the intron 22 inversion (inv22) and invl of the FⅧ ceding gene (FS). The F8 coding sequence was amplified with PCR and
sequenced with an automatic sequencer. Results Two unrelated patients (pedigrees) were detected as invl positive with a positive rate of 1.26%. A rare female HA patient with invl was also discovered in a positive family (3 HA cases were found in this family and regarded as one case in calculating the total detection rate). The full length of FⅧ was sequenced, and no other mutation was detected. Conclusion There frequency of FⅧ inv1 is low in Chinese HA patients compared with other populations. Female HA patients are heterozygous for FⅧ inv1 and that may be resulted from nonrandom inactivation of X chromosome.
【总页数】3页(2672-2674)
【关键词】血友病A;因子Ⅷ;基因;内含子;倒位
【作者】闫振宇;梁燕;闫梅;范连凯;肖白;华宝来;刘敬中;赵永强
【作者单位】华北煤炭医学院附院血液科;北京朝阳医院基础医学研究中心;北京朝阳医院基础医学研究中心;100730,北京,中国医学科学院中国协和医科大学北京协和医院血液科;北京朝阳医院基础医学研究中心;100730,北京,中国医学科学院中国协和医科大学北京协和医院血液科;北京朝阳医院基础医学研究中心;100730,北京,中国医学科学院中国协和医科大学北京协和医院血液科 【正文语种】中文 【中图分类】R5 【文献来源】
https://www.zhangqiaokeyan.com/academic-journal-cn_national-
medical-journal-china_thesis/0201255368780.html 【相关文献】
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血友病A患者凝血因子Ⅷ基因内含子1倒位的检测
