1. An STS-Based Map of the Human Genome
2. Because sites of human polymorphism occur roughly every kilobase it will not suffice to compare a single affected individual and a single unaffected individual. However comparison of many individuals will likely implicate the correct gene as having a high proportion of variants in affecteds.
3. Accessing Genetic Information with High-Density DNA Arrays
4. Although systematic data are limited it is common experience to find no differences in coding sequence between two random individuals which indicates a small effective number of alleles.
5. Under classical simplifying assumptions the effective number of alleles at a locus is expected to be n = 1 + 4 N μ where N is effective population size and μ is mutation rate. The human population was perhaps N ≈ 100 000 individuals roughly 100 000 years ago [F. Ayala Science 270 1930 (1995)] and the mutation rate for a typical gene is perhaps μ = 2 × 10 −6 . Although only approximate the model clearly indicates that n is small.