Prevalence, male germ-line origin and new patterns of inversions in haemophilia A.
Prevalence, male germ-line origin and new patterns of inversions in haemophilia A.
复制标题
A 型血友病的患病率、雄性种系起源和倒置的新模式。
DOI：
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发表时间：
1997
期刊：
影响因子：
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通讯作者：
M. Delpech
中科院分区：
文献类型：
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作者：
S. Valleix;K. Nafa;N. Stieltjes;M. Viémont;Y. Sultan;J. Kaplan;M. Delpech
在Lakich et al.[1]和Naylor et al.[1]发现FVIII基因反转后，我们在108名法国和阿尔及利亚严重血友病A患者中研究了这种突变。我们发现只有29名严重血友病患者（27%）表现出重排，而Lakich et al.[1]和Naylor et al.[1]分别估计严重血友病患者的反转频率为47%和42%。造成这种差异的原因没有说明。在这项研究中，我们观察到两种尚未报道的倒转模式。我们没有发现反转的存在与特定的RLFP单倍型、种族起源或缺乏FVIII抑制剂之间存在任何相关性。在发生反转的病例中，散发病例和传播病例的比例大致相当，我们也证实了反转优先发生在雄性种系中。
Following the discovery of the FVIII gene inversion by Lakich et al. [1] and Naylor et al. [2], we have investigated this mutation in 108 French and Algerian severe haemophilia A patients. We have found that only 29 severe haemophiliacs (27%) exhibited the rearrangement whereas Lakich et al. [1] and Naylor et al. [2] respectively estimated the inversion frequency at 47% and 42% in severe haemophiliacs. The reason for this discrepancy is not accounted for. In this study, we observed two novel patterns of inversions as yet unreported. We did not find any correlation between the presence of the inversion and a particular RLFP haplotype, or ethnic origin, or the absence of a FVIII inhibitor. Among the cases with the inversion, the proportion of sporadic and transmitted cases was roughly equivalent and we also confirm that the inversion occurs preferentially in the male germ-line.