[重度甲型血友病中凝血因子VIII内含子1倒位的检测]
[Detection of factor VIII intron 1 inversion in severe haemophilia A].
作者信息
Liang Yan, Yan Zhen-yu, Yan Mei, Hua Bao-lai, Xiao Bai, Zhao Yong-qiang, Liu Jing-zhong
机构信息
Basic Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100020 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):323-5. doi: 10.3760/cma.j.issn.1003-9406.2009.03.019.
OBJECTIVE
Screening the intron 1 inversion of factor VIII (FVIII) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis.
METHODS
Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in severe HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests.
RESULTS
One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus.
CONCLUSION
Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.
目的
在中国重型甲型血友病（HA）患者群体中筛查凝血因子VIII（FVIII）基因内含子1倒位，并进行携带者检测和产前诊断。
方法
采用长距离PCR（LD-PCR）检测重型HA患者的内含子22倒位，用两管多重PCR检测内含子1倒位。对受累家庭进行携带者检测和产前诊断。采用连锁分析和DNA测序验证这些检测结果。
结果
在247例重型HA患者中，118例患者被诊断为内含子22倒位，7例为内含子1倒位。中国重型甲型血友病患者中内含子1倒位的发生率为2.8%（7/247）。A家族6名女性和B家族2名女性被诊断为携带者。A家族1例胎儿为受累胎儿。
结论
两管多重PCR可直接检测内含子1倒位。该方法使血友病A携带者和产前诊断策略更加完善。
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