Table 2

Excessive homozygosity in the general population.

Observed (expected)

Excessive heterozygosity

Excessive homozygosity


Dissimilar among couples

16 (7.97)

20 (28.03)

Similar among couples

13 (21.03)

82 (73.97)


SNPs that are dissimilar among couples in the IMSGC dataset tend to show excessive heterozygosity in the HapMap CEU samples, while markers that are similar among IMSGC couples show excessive homozygosity in the HapMap samples (chi-square p < 0.004, expected values shown in parentheses). In all, 131 SNPs showed significant similarity or dissimilarity among IMSGC couples (p < 0.024) and significant deviation from Hardy-Weinberg equilibrium in the independent HapMap CEU dataset (p < 0.024).

Khankhanian et al. BMC Genomics 2010 11:626   doi:10.1186/1471-2164-11-626

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