Mapping Qualitative Traits in Humans Using Affected Sib Pairs

Abstract

In humans we cannot create inbred lines, backcrosses, etc. Consequently, it is more difficult to study directly the correlation of phenotypes and genetic markers. We can proceed indirectly by noting that relatives frequently have more similar phenotypes than non-relatives, presumably because they have more similar genotypes. For studying human diseases, particularly convenient units are affected sib pairs (ASP), which are the subject of this chapter. We delay until Chap. 11 a discussion of the substantially more complex problem of pedigrees involving variable numbers and relationships of affecteds.