Morgan G E, Figueiredo M S, Winship P R, Baker R, Bolton-Maggs P H, Brownlee G G
Chemical Pathology Unit, Sir William Dunn School of Pathology, University of Oxford.
Br J Haematol. 1995 Mar;89(3):672-4. doi: 10.1111/j.1365-2141.1995.tb08388.x.
We report a new Liverpool family with a mild haemophilia B Leyden phenotype caused by a -6G-->A mutation in a CpG dinucleotide in the promoter of the clotting factor IX gene. This mutation had previously been identified in three other U.K. pedigrees and six others worldwide. To investigate whether these mutations were of independent origin, the haplotype was determined for eight polymorphic loci, within or immediately adjacent to the factor IX gene, for nine of the 10 existing patients. Six probands had identical haplotypes, including all four U.K. probands, suggesting that they arose from a common founder. The other three probands differed in haplotype from the common haplotype, and from each other, suggesting that they were independent mutations at this CpG dinucleotide.
我们报告了一个新的利物浦家族，该家族患有轻度莱登型B型血友病，其病因是凝血因子IX基因启动子中一个CpG二核苷酸发生了-6G→A突变。此突变先前在其他三个英国家系及全球其他六个家系中已被发现。为研究这些突变是否源于独立起源，我们对10名现有患者中的9名，测定了凝血因子IX基因内部或紧邻该基因的8个多态性位点的单倍型。6名先证者具有相同的单倍型，包括所有4名英国家系的先证者，这表明它们源自同一个共同的始祖。另外3名先证者的单倍型与共同单倍型不同，且彼此之间也不同，这表明它们是该CpG二核苷酸处的独立突变。
