Kumar Praveen, Faridi Nuzhat J, Husain Nuzhat, Soni Priyanka, Goel Sudhir K
Genetics Laboratory, Department of Pathology, Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India.
Blood Coagul Fibrinolysis. 2013 Mar;24(2):120-4. doi: 10.1097/MBC.0b013e3283574f40.
The present study assessed the frequency of intron 22 inversion mutation (Inv 22) in north Indian population with a cost analysis of different methods used for Inv 22 detection. We assessed the frequency of intron 22 inversion mutation in a series of 181 cases with hemophilia A and also compared methods used for detection of the mutation including the long-distance PCR, Southern blot analysis, and inverse PCR in terms of cost, infrastructure, and technical input as well as turnaround time. The study group comprised 102 severe cases and 79 moderate cases of hemophilia A from a north Indian population of which 77 cases tested positive for Inv 22. The observed frequency of Inv22 mutation was 42.5%. Inv 22 resulted in a more severe phenotype and lower FVIII bioassay levels as compared to Inv 22 negative cases. Inv 22 positive cases also frequently presented with bleeding episodes at birth and the mean age for commencement of bleeding was lower (19 months) as compared to Inv-negative cases (50 months). The mean frequency of Inv 22 in cases with hemophilia A in a worldwide review is 44.25% of hemophilia A. Inv 22 can be conveniently detected by using the inverse PCR method. This technique is easy to standardize and lowest in cost.
本研究评估了印度北部人群中内含子22倒位突变（Inv 22）的频率，并对用于检测Inv 22的不同方法进行了成本分析。我们评估了181例甲型血友病患者中内含子22倒位突变的频率，并比较了用于检测该突变的方法，包括长距离PCR、Southern印迹分析和反向PCR，在成本、基础设施、技术投入以及周转时间方面的差异。研究组包括来自印度北部人群的102例严重甲型血友病患者和79例中度患者，其中77例Inv 22检测呈阳性。观察到的Inv22突变频率为42.5%。与Inv 22阴性病例相比，Inv 22导致更严重的表型和更低的FVIII生物活性水平。Inv 22阳性病例在出生时也经常出现出血发作，出血开始的平均年龄（19个月）低于Inv阴性病例（50个月）。在一项全球综述中，甲型血友病病例中Inv 22的平均频率为甲型血友病的44.25%。使用反向PCR方法可以方便地检测到Inv 22。该技术易于标准化且成本最低。
