Stowell K M, Figueiredo M S, Brownlee G G, Jones P, Bolton-Maggs P H
Sir William Dunn School of Pathology, University of Oxford.
Br J Haematol. 1993 Sep;85(1):188-90. doi: 10.1111/j.1365-2141.1993.tb08667.x.
We report a Lancashire family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter. This mutation has been reported previously in Britain in one other affected family. The factor IX haplotype of these two unrelated patients was determined by PCR analysis of seven polymorphic sites within or close to the factor IX gene. This analysis involved the intragenic Msp I polymorphism which we have now located precisely to allow the design of suitable PCR primers. The haplotype of both of these patients was identical suggesting but not proving a possible common origin for the mutation.
我们报告了一个患有轻度B型血友病的兰开夏郡家族，该家族与因子IX启动子中的-6 G到A突变相关。此前在英国的另一个患病家族中也曾报道过这种突变。通过对因子IX基因内或其附近的七个多态性位点进行PCR分析，确定了这两名不相关患者的因子IX单倍型。该分析涉及基因内的Msp I多态性，我们现已精确确定其位置，以便设计合适的PCR引物。这两名患者的单倍型相同，这表明但未证实该突变可能有共同起源。
