杜氏肌营养不良症的突变率不存在性别差异。
No sex difference in mutations rates of Duchenne muscular dystrophy.
作者信息
Yasuda N, Kondô K
出版信息
J Med Genet. 1980 Apr;17(2):106-11. doi: 10.1136/jmg.17.2.106.
Abstract
Segregation analysis was performed to evaluate possible differences in mutation rates in man. It was based on 514 males with Duchenne type muscular dystrophy (DMD) from five of nineteen hospitals for muscular disease in Japan. The estimated proportion of sporadic cases (new mutations) was 0.29 +/- 0.046, which is in excellent agreement with the expected 0.333 if there is no sex difference in mutation rates. The rate of mutation was estimated to be 6.3 X 10(-5) per generation. The incidence and prevalence rates among males were estimated to be 217 X 10(-6) and 49.9 X 10(-6), respectively.
摘要
进行了分离分析，以评估人类突变率的可能差异。该分析基于来自日本19家肌肉疾病医院中5家医院的514名杜氏型肌营养不良症（DMD）男性患者。散发病例（新突变）的估计比例为0.29±0.046，如果突变率没有性别差异，这与预期的0.333非常一致。估计每代的突变率为6.3×10⁻⁵。男性中的发病率和患病率估计分别为217×10⁻⁶和49.9×10⁻⁶。
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