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）
Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.
作者信息
Sibert J R, Harper P S, Thompson R J, Newcombe R G
出版信息
Arch Dis Child. 1979 Jul;54(7):534-7. doi: 10.1136/adc.54.7.534.
The mean levels of serum creatinine phosphokinase (CPK) were studied in three groups of women: normal controls (57), obligate carriers for Duchenne muscular dystrophy (30), and mothers of isolated cases of this disease (35). The distribution of the levels in these groups was significantly different and was in keeping with the hypothesis that one-third of isolated cases result from new mutations. The control and carrier ranges overlapped considerably, with the level of CPK of 33% of obligate carriers coming within the 97 1/2 centile of the normal range. Odds against an individual being a carrier were derived for specific mean values of CPK. They should be considered with genetic information using Bayes's theorem. The mean CPK levels in obligate carriers showed significant familial clustering. This may have implications in carrier detection.
对三组女性的血清肌酸磷酸激酶（CPK）平均水平进行了研究：正常对照组（57人）、杜氏肌营养不良症的 obligate 携带者（30人）以及该病散发病例的母亲（35人）。这些组中CPK水平的分布存在显著差异，这与三分之一的散发病例源于新突变的假设相符。对照组和携带者组的范围有相当大的重叠，33%的 obligate 携带者的CPK水平处于正常范围的第97.5百分位数之内。针对CPK的特定平均值得出了个体成为携带者的比值比。应使用贝叶斯定理结合遗传信息来考虑这些比值比。obligate 携带者的平均CPK水平显示出显著的家族聚集性。这可能对携带者检测有影响。
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