Ahmed Rafeeq P H, Ivaskevicius Vytautas, Kannan Meganathan, Seifried Erhard, Oldenburg Johannes, Saxena Renu
Haematologica. 2005 Feb;90(2):283-4.
Seventy-five unrelated hemophilia A patients from India were analyzed for factor VIII gene defects. Intron 22 inversion was identified in 22 patients and intron 1 inversion in 2 patients. In the remaining 51 patients without inversions screening the FVIII gene by denaturing high performance liquid chromatography (DHPLC) revealed 42 different mutations in 44 unrelated subjects. These included 14 missense, 7 nonsense, 9 splice site, 8 deletional, 3 insertional mutations and one indel mutation. Of these, 32 were novel gene alterations. The hotspots included intron 22 inversion, CpG and adenine runs.
对来自印度的75名非亲缘关系的甲型血友病患者进行了凝血因子VIII基因缺陷分析。在22名患者中鉴定出内含子22倒位，2名患者中鉴定出内含子1倒位。在其余51名未发生倒位的患者中，通过变性高效液相色谱法（DHPLC）筛查FVIII基因，在44名非亲缘关系的受试者中发现了42种不同的突变。其中包括14种错义突变、7种无义突变、9种剪接位点突变、8种缺失突变、3种插入突变和1种插入缺失突变。其中，32种是新的基因改变。热点包括内含子22倒位、CpG和腺嘌呤重复序列。
