Sultanaeva Z M, Viktorova T V, Aseev M V, Baranov V S, Khusnutdinova E K
Institute of Biochemistry and Genetics, Bashkir Scientific Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russia.
Genetika. 2000 May;36(5):699-703.
The distribution of hemophilia A was studied in Bashkortostan. The factor VIII gene of the blood coagulation system was analyzed in 34 patients with hemophilia A and 48 of their close relatives. Inversion of intron 22 of the factor VIII gene was revealed in nine cases, which comprised 30% of the total sample analyzed. The type II and type III of this mutation occurred at a relatively high frequency, which may be explained by the founder effect and genetic drift. The allelic frequencies of the polymorphic locus HindIII at intron 19 were similar; a substantial allelic heterogeneity of both microsatellite (CA)-repeats at intron 13 and the DXS52 locus were found on normal and mutant X chromosomes. The molecular genetic analysis of (CA)-repeats and the loci HindIII and DXS52 in families with hemophilia A makes it possible to reveal up to 89% of the informative families.
对巴什科尔托斯坦共和国的甲型血友病分布情况进行了研究。对34例甲型血友病患者及其48名近亲的凝血系统凝血因子VIII基因进行了分析。在9例中发现了凝血因子VIII基因内含子22的倒位，占所分析总样本的30%。这种突变的II型和III型出现频率相对较高，这可能是由奠基者效应和遗传漂变所解释的。内含子19处多态性位点HindIII的等位基因频率相似；在内含子13的微卫星（CA）重复序列和DXS52位点上，在正常和突变的X染色体上均发现了大量的等位基因异质性。对甲型血友病家族中（CA）重复序列以及HindIII和DXS52位点进行分子遗传学分析，能够揭示出高达89%的信息丰富的家族。
