Walker A, Hart K, Cole C, Hodgson S, Johnson L, Dubowitz V, Bobrow M
J Med Genet. 1986 Dec;23(6):538-47. doi: 10.1136/jmg.23.6.538.
We have studied the inheritance of four cloned DNA sequences which recognise restriction fragment length polymorphisms on the short arm of the X chromosome in families with Becker and Duchenne muscular dystrophy. We have confirmed linkage of two probe loci to the disease loci and have combined our results with those previously published to give a maximum lod score of 11.642 at a recombination fraction of 0.15 for DXS41 (probe 99.6), and a maximum lod of 15.84 at a recombination fraction of 0.15 for DXS84 (probe 754). Linkage of these diseases to the loci defined by the pERT87 probes and probe pXJ1.1 has also been studied, giving maximum lod scores of 8.634 and 5.118 at recombination fractions of 0.02 and 0.00 respectively. The information obtained using these polymorphic DNA markers, combined with pedigree and CK data, can be used to give more accurate genetic counselling to women at risk in Becker and Duchenne families.
我们研究了四个克隆的DNA序列的遗传情况，这些序列可识别患有贝克型和杜兴型肌营养不良症家族中X染色体短臂上的限制性片段长度多态性。我们已证实两个探针位点与疾病位点存在连锁关系，并将我们的结果与先前发表的结果相结合，得出在重组率为0.15时，DXS41（探针99.6）的最大对数优势得分为11.642，而在重组率为0.15时，DXS84（探针754）的最大对数优势得分为15.84。我们还研究了这些疾病与由pERT87探针和探针pXJ1.1定义的位点之间的连锁关系，在重组率分别为0.02和0.00时，最大对数优势得分分别为8.634和5.118。利用这些多态性DNA标记获得的信息，结合系谱和肌酸激酶数据，可为贝克型和杜兴型家族中有风险的女性提供更准确的遗传咨询。
