杜氏肌营养不良症的散发病例。通过对988个同胞对进行分离分析的重新评估。
Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.
作者信息
Russo A, Barbujani G, Mostacciuolo M L, Herrmann F H, Spiegler A W, Galluzzi G, Danieli G A
出版信息
Hum Genet. 1987 Jul;76(3):230-5. doi: 10.1007/BF00283613.
A new estimation of the proportion of sporadic cases in Duchenne muscular dystrophy was attempted by means of segregation analysis in a sample of 988 sibships collected on a world-wide scale by different authors. Maximum likelihood estimates of ascertainment probability (pi), segregation frequency (p), and frequency of sporadic cases (x) were calculated by Morton's equations under different hypotheses. The best fit was found for p = 0.454 +/- 0.024 and x = 0.235 +/- 0.034. The possibility that the proportion of sporadic cases might be lower than the expected 1/3 is suggested.
通过对不同作者在全球范围内收集的988个同胞对样本进行分离分析，尝试对杜氏肌营养不良症散发病例的比例进行新的估计。在不同假设下，根据莫顿方程计算确定概率（pi）、分离频率（p）和散发病例频率（x）的最大似然估计值。发现最佳拟合值为p = 0.454 +/- 0.024和x = 0.235 +/- 0.034。这表明散发病例的比例可能低于预期的1/3。
Zotero 插件