Williams H, Sarfarazi M, Brown C, Thomas N, Harper P S
Arch Dis Child. 1986 Mar;61(3):218-22. doi: 10.1136/adc.61.3.218.
Seventy three sisters of boys with Duchenne muscular dystrophy and their families were studied using up to seven deoxyribonucleic acid (DNA) probes linked to the gene on the short arm of the X chromosome. Fifty three (73%) were informative for flanking markers, a further 18 (24%) being informative for a single marker only. Predictions based on pedigree structure and creatine kinase information from the individuals and their female relatives gave more than half (55%) of the sisters a risk for being a carrier of below 10% or above 90%. The addition of information derived from the inheritance of flanking DNA markers, where they exist, improves the situation so that many more sisters (77%) can be allocated into either high or low risk categories.
对73名患有杜氏肌营养不良症男孩的姐妹及其家庭进行了研究,使用了多达7种与X染色体短臂上的基因相连的脱氧核糖核酸(DNA)探针。其中53名(73%)在侧翼标记方面具有信息价值,另有18名(24%)仅在单个标记方面具有信息价值。根据家系结构以及个体及其女性亲属的肌酸激酶信息进行预测,超过一半(55%)的姐妹成为携带者的风险低于10%或高于90%。在存在侧翼DNA标记遗传信息的情况下,添加这些信息可改善情况,从而使更多姐妹(77%)能够被归入高风险或低风险类别。