(ii) Family-based linkage and case control association studies

Disease gene mapping is the first step towards our ultimate goal for understanding the etiology of a disease. Family-based linkage analysis and population-based association studies have been combining successfully as the workhorses for hunting disease genes in the past decades and are performed concurrently. To attain an adequate balance between maximizing the chance of discovering potential disease-causing genes and minimizing the cost of study implementation, an optimal study design is necessary. Important issues on the basics of human genetics, principles of linkage analysis and association studies, advantages and limitations of individual strategies, as well as practical procedures in conducting disease gene mapping are discussed in detail.