复杂遗传性状连锁不平衡基因定位的理论基础(英)

复杂遗传疾病基因的定位克隆要求首先获得疾病位点与遗传标记位点间的高分辨率连锁图谱．研究表明，这一目标可通过建立和筛选适当的候选标记位点与目标性状位点间的连锁不平衡的理论分析模型而实现．但这些模型只适用于位点基因型可以通过实验而准确分型的范围．本文报道在不可测基因型复杂遗传疾病的细微定位理论与方法方面所取得的研究成果．

Theoretical Basis of Linkage Disequilibrium Based Mapping of Genes Underlying Complex Traits

Positional cloning of gene(s) underlying a complex disease trait poses requirement of a high-resolution linkage map between the disease locus and genetic marker loci. Recent researches have shown this may be achieved through appropriately modeling and screening linkage disequilibrium between the candidate marker locus and the major trait locus in isolated founder populations. However, these models were restricted to the cases where genotyping at the disease locus was feasible. This paper reports the recent efforts in developing theories for fine-scale mapping of genes underlying complex genetic variations where the one-to-one relationship no longer exits between phenotype of the genetic disorders and the corresponding genotype.