Passos-Bueno M R, Otto P A, Zata M
Departamento de Biologia, Universidade de São Paulo, Brazil.
Hum Hered. 1989;39(4):202-11. doi: 10.1159/000153861.
Using the data from daughters of known carriers and from age-paired controls, we present a method for estimating the mean and variance of creatine kinase (CK) and pyruvate kinase (PK) in pre-menarchal and early adolescent Duchenne muscular dystrophy (DMD) carriers. CK and PK means and variances were estimated for different age ranges; it is shown that among DMD carriers the levels of both enzymes decrease linearly with age. A discriminant analysis was further performed for the estimation of biochemical risks favouring the diagnosis of heterozygosity for possible young carriers. The use of this method may also be applicable for other X-linked conditions in which the detection of heterozygotes is probabilistic.
利用已知携带者女儿的数据以及年龄匹配的对照数据，我们提出了一种方法，用于估计青春期前和青春期早期杜氏肌营养不良症（DMD）携带者中肌酸激酶（CK）和丙酮酸激酶（PK）的均值和方差。针对不同年龄范围估计了CK和PK的均值及方差；结果表明，在DMD携带者中，这两种酶的水平均随年龄呈线性下降。进一步进行了判别分析，以估计有利于诊断可能的年轻携带者杂合性的生化风险。该方法的应用也可能适用于其他杂合子检测具有概率性的X连锁疾病。
