Brookfield J F, Pollitt R J, Young I D
Department of Genetics, University of Leicester.
J Med Genet. 1988 Mar;25(3):181-5. doi: 10.1136/jmg.25.3.181.
Limitation of family size after the birth of a child with a serious disorder poses a problem in demonstrating autosomal recessive inheritance. In this paper methods are presented for distinguishing autosomal recessive inheritance given a 100% deterrent effect, and revealing a partial deterrent effect by analysis of sibship size and comparison with general population data. These methods are illustrated using information from phenylketonuria families.
在患有严重疾病的孩子出生后限制家庭规模,这在证明常染色体隐性遗传方面带来了一个问题。本文提出了一些方法,用于在具有100%抑制作用的情况下区分常染色体隐性遗传,并通过分析同胞数量以及与一般人群数据进行比较来揭示部分抑制作用。这些方法通过苯丙酮尿症家庭的信息进行了说明。