Harper K, Winter R M, Pembrey M E, Hartley D, Davies K E, Tuddenham E G
Lancet. 1984 Jul 7;2(8393):6-8. doi: 10.1016/s0140-6736(84)91995-0.
Genetic linkage studies were done in families segregating for haemophilia A with an X-chromosome-specific probe, DX13, which has been localised to band Xq28. When DNA is digested with the restriction enzyme Bg1 II, this probe recognises a restriction fragment length polymorphism, for which 50% of females are heterozygous. No crossovers were seen between the haemophilia A locus and the DX13 locus (lod score = 5.4 at recombination fraction [theta] 0.0; 95% confidence limits of theta, 0-12%). This indicates that the DX13 probe is closely linked to the haemophilia A locus and is likely to prove useful in carrier detection and prenatal diagnosis.
利用X染色体特异性探针DX13对血友病A进行家系遗传连锁研究，该探针已定位于Xq28带。当用限制性内切酶Bg1 II消化DNA时，此探针可识别一种限制性片段长度多态性，50%的女性为此多态性的杂合子。未观察到血友病A基因座与DX13基因座之间发生交换（重组率[θ]为0.0时，连锁值=5.4；θ的95%置信限为0-12%）。这表明DX13探针与血友病A基因座紧密连锁，可能在携带者检测和产前诊断中有用。
