侧翼标记物在杜氏肌营养不良症预测中的应用。
The use of flanking markers in prediction for Duchenne muscular dystrophy.
作者信息
Williams H, Sarfarazi M, Brown C, Thomas N, Harper P S
出版信息
Arch Dis Child. 1986 Mar;61(3):218-22. doi: 10.1136/adc.61.3.218.
Abstract
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.
摘要
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。
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本文引用的文献
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PEDIG--a computer program for calculation of genotype probabilities using phenotype information.PEDIG——一个利用表型信息计算基因型概率的计算机程序。
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Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.七种DNA探针与杜兴氏和贝克氏肌肉营养不良症的遗传连锁关系。
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Calculation of genetic risks in Duchenne muscular dystrophy by geneticists in the United Kingdom.英国的遗传学家对杜氏肌营养不良症的遗传风险进行计算。
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Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.杜氏肌营养不良症的携带者检测。来自对孤立病例的 obligatory 携带者和母亲的研究证据。 （注：“obligatory carriers”不太明确准确中文表述，可根据具体医学背景进一步优化）
Arch Dis Child. 1979 Jul;54(7):534-7. doi: 10.1136/adc.54.7.534.
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