Hasstedt S J, Atkin C L
Am J Hum Genet. 1983 Nov;35(6):1241-51.
Likelihood analysis using two autosomal/X-linked mixed models confirmed that Alport syndrome is an X-linked dominant disease in a large Utah kindred, family P. The penetrance was estimated as .85 in females and 1.0 in males. Previously reported abnormal segregation ratios were reexamined. No excess of affected offspring of affected parents was found. Nor was the penetrance in daughters of asymptomatic carrier mothers found to be lower than in the daughters of symptomatic mothers, although the sample size was small. However, there was an unexplained deficiency of sons of affected fathers. There was no deficiency of sons of affected mothers, nor was there a deficiency of males in the kindred.
使用两个常染色体/ X连锁混合模型进行的似然分析证实，在犹他州的一个大家族P中，阿尔波特综合征是一种X连锁显性疾病。女性的外显率估计为0.85，男性为1.0。对先前报道的异常分离比进行了重新审视。未发现患病父母的患病后代过多。无症状携带者母亲的女儿的外显率也未发现低于有症状母亲的女儿，尽管样本量较小。然而，患病父亲的儿子数量存在无法解释的不足。患病母亲的儿子数量没有不足，该家族中的男性数量也没有不足。
