Olson J M, Wijsman E M
Department of Biostatistics, University of Washington, Seattle.
Am J Hum Genet. 1994 Sep;55(3):574-80.
The presence of linkage disequilibrium between closely linked loci can aid in the fine mapping of disease loci. We investigate the power of several designs for sampling individuals with different disease genotypes. As expected, haplotype data provide the greatest power for detecting disequilibrium, but, in the absence of parental information to resolve the phase of double heterozygotes, the most powerful design samples only individuals homozygous at the trait locus. For rare diseases, such a scheme is generally not feasible, and we also provide power and sample-size calculations for designs that sample heterozygotes. The results provide information useful in planning disequilibrium studies.
紧密连锁基因座之间的连锁不平衡的存在有助于疾病基因座的精细定位。我们研究了几种针对具有不同疾病基因型个体的抽样设计的效能。正如预期的那样，单倍型数据在检测连锁不平衡方面具有最大的效能，但是，在缺乏亲代信息来解析双杂合子的相位时，最有效的设计仅对性状基因座纯合的个体进行抽样。对于罕见疾病，这样的方案通常不可行，并且我们还提供了对杂合子进行抽样的设计的效能和样本量计算。这些结果为规划连锁不平衡研究提供了有用的信息。
