Howard P L, Hoag J B, Bovill E G, Heintz N H
Department of Pathology, University of Vermont College of Medicine, Burlington 05405.
Am J Hematol. 1988 Jul;28(3):167-9. doi: 10.1002/ajh.2830280307.
The carrier status of two sisters of the mother of a hemophilic boy was clarified by the use of DNA probes in a family with a single case of hemophilia A and no family history of the disease. The extragenic polymorphic site demonstrated by probe DX13 (locus DXS15) and the intragenic polymorphic site demonstrated by BgI I digestion and a factor VIII partial cDNA probe indicated that the mother of the index case carried a mutation in the X-chromosome received from her nonhemophilic father rather than the X-chromosome received from her mother. In spite of equivocal coagulation data, the mother's two sisters were shown not to be carriers of hemophilia A.
在一个仅有一例甲型血友病且无该病家族史的家庭中，通过使用DNA探针明确了血友病男孩母亲的两个姐妹的携带者状态。由探针DX13（基因座DXS15）显示的基因外多态性位点以及由BgI I消化和因子VIII部分cDNA探针显示的基因内多态性位点表明，先证者的母亲在从其非血友病父亲那里继承的X染色体上携带了一个突变，而非从其母亲那里继承的X染色体。尽管凝血数据不明确，但母亲的两个姐妹被证明不是甲型血友病的携带者。
