Sakoda S, Suzuki T, Higa S, Ueji M, Kishimoto S, Hayashi A, Yasuda N, Takaba Y, Nakajima A
Clin Genet. 1983 Nov;24(5):334-8.
A genealogical survey of familial amyloid polyneuropathy in the Arao district of Japan was undertaken, and the data were analysed statistically. The survey revealed 92 patients (46 males and 46 females) in 9 families. Thirty-one of the patients (16 males and 15 females) are alive. For 44 patients, the mean age of onset was 34.1 years (range 20-46 years). The penetrance corrected for late onset was 83.5% by Morton's method. The segregation ratio of 18 sibships in which one of the parents was affected was 36 +/- 6% for single ascertainment and 46 +/- 5% for complete ascertainment; the corresponding figures of 14 sibships in which neither parent was affected was 30 +/- 7% for single ascertainment and 40 +/- 6% for complete ascertainment. The results of the analysis were consistent with the assumption of an autosomal dominant mode of inheritance.
对日本荒尾地区的家族性淀粉样多神经病进行了系谱调查，并对数据进行了统计分析。该调查发现9个家族中有92名患者（46名男性和46名女性）。其中31名患者（16名男性和15名女性）仍在世。44名患者的平均发病年龄为34.1岁（范围20 - 46岁）。采用莫顿方法校正迟发后的外显率为83.5%。在18个同胞关系中，父母一方患病的单病例确诊分离比为36±6%，完全确诊分离比为46±5%；在14个同胞关系中，父母均未患病的单病例确诊分离比为30±7%，完全确诊分离比为40±6%。分析结果与常染色体显性遗传模式的假设一致。
