Teng J, Siegmund D
Department of Statistics, Stanford University, CA 94305, USA.
Am J Hum Genet. 1997 Apr;60(4):979-92.
This paper is concerned with efficient strategies for gene mapping using pedigrees containing small numbers of affecteds and identity-by-descent data from closely spaced markers throughout the genome. Particular attention is paid to additive traits involving phenocopies and/or locus heterogeneity. For a sample of pedigrees containing a particular configuration of affecteds, e.g., pairs of siblings together with a first cousin, we use a likelihood analysis to find 1-df statistics that are very efficient over a broad range of penetrances and allele frequencies. We identify configurations of affecteds that are particularly powerful for detecting linkage, and we show how pedigrees containing different numbers and configurations of affecteds can be efficiently combined in an overall test statistic.
本文关注的是利用包含少量患病个体的家系以及全基因组中紧密间隔标记的同源基因数据进行基因定位的有效策略。特别关注涉及拟表型和/或基因座异质性的加性性状。对于包含特定患病个体配置(例如同胞对和一级表亲)的家系样本,我们使用似然分析来找到在广泛的外显率和等位基因频率范围内非常有效的单自由度统计量。我们确定了对检测连锁特别有效的患病个体配置,并展示了如何在总体检验统计量中有效地组合包含不同数量和配置的患病个体的家系。