Poon M C, Chui D H, Patterson M, Starozik D M, Dimnik L S, Hoar D I
J Clin Invest. 1987 Apr;79(4):1204-9. doi: 10.1172/JCI112938.
We have used two strategies to study 14 hemophilia B families from 11 kindreds for possible carrier detection and prenatal diagnosis. First, we sequentially used the Factor IX probes (sequentially with restriction enzymes Taq I, Xmn I, and Dde I), and the linked probes p45h (Taq I), p45d (Pst I), and 52a (Taq I) for restriction fragment length polymorphism (RFLP) analysis. Second, we searched for useful variant Taq I digestion fragments using the Factor IX complementary DNA. Two separate new Taq I variants in exon VIII were identified. Using both strategies, 11 of 14 families (from 9 of 11 kindreds) were informative for further studies. In five kindreds studied in detail, the carrier status of all 11 at risk females was determined and prenatal diagnosis could be offered to the offsprings of each of the six carriers identified. Thus, in this study, we have identified a higher proportion of informative families than has previously been reported.
我们采用了两种策略来研究来自11个家族的14个B型血友病家族，以进行可能的携带者检测和产前诊断。首先，我们依次使用IX因子探针（依次与限制性内切酶Taq I、Xmn I和Dde I），以及连锁探针p45h（Taq I）、p45d（Pst I）和52a（Taq I）进行限制性片段长度多态性（RFLP）分析。其次，我们使用IX因子互补DNA寻找有用的变异Taq I消化片段。在第八外显子中鉴定出两个单独的新Taq I变异体。使用这两种策略，14个家族中的11个（来自11个家族中的9个）可用于进一步研究。在详细研究的5个家族中，确定了所有11名有风险女性的携带者状态，并可为已鉴定出的6名携带者中每一位的后代提供产前诊断。因此，在本研究中，我们鉴定出了比以前报道更高比例的可提供信息的家族。
