Table 3.
Summary of Human Nuclear Sequence Variation Studies
Authors | Year | Region | La | nb | Sc | kd | π |
---|---|---|---|---|---|---|---|
Hey | 1997 | PDHA1, X chre | 1.8 | 8 | 4 | 4 | 0.0015 |
Zietkiewicz et al. | 1998 | Dystrophin, X chr | 7.6 | 250 | 35 | 36 | 0.0013 |
Nachman et al. | 1998 | Introns from 7 loci, X chr | 11.4 | 10 | 20 | — | 0.0008 |
Harris and Hey | 1999 | PDHA1, X chr | 4.2 | 35 | 25 | 11 | 0.0022 |
Kaessman et al. | 1999 | Non coding region, X chr | 10.2 | 69 | 33 | 20 | 0.0005 |
Jaruzelska et al. | 1999a | ZFX, X chr | 1.1 | 336 | 10 | 11 | 0.0011 |
Dorit et al. | 1995 | ZFY, Y chr | 0.7 | 38 | 0 | 1 | 0 |
Hammer | 1995 | YAP region, Y chr | 2.6 | 16 | 5 | 5 | 0.0004 |
Whitfield et al. | 1995 | SRY, Y chr | 18.3 | 5 | 3 | 4 | 0.0003 |
Jaruzelska et al. | 1999b | ZFY, Y chr | 0.7 | 205 | 1 | 2 | 0.00006 |
Shen et al. | 2000 | SMCY, UTY1, DBY, DFFY, Y chr | 81 | 53 | 98 | — | 0.000052 |
Li and Sadler | 1991 | 49 autosomal loci | 75 | 2 | — | — | 0.0011† |
Fullerton et al. | 1994 | β-globin, chr 11 | 3.1 | 36 | 17 | 17 | 0.0014 |
Harding et al. | 1997 | β-globin, chr 11 | 2.7 | 349 | 35 | 30 | 0.0018 |
Clark et al. | 1998 | LPL, chr 8 | 9.7 | 142 | 88 | 88 | 0.0020 |
Grimsley et al. | 1998 | HLA-H pseudogene, chr 6 | 0.3 | 34 | 15 | 11 | 0.0196 |
Rieder et al. | 1999 | ACE, chr 17 | 24 | 22 | 78 | 13 | 0.0009 |
Halushka et al. | 1999 | 75 genes | 190 | 149 | — | — | 0.0008 |
Rana et al. | 1999 | MC1R, chr 16 | 0.95 | 242 | 6 | 6 | 0.0020 |
Fullerton et al. | 2000 | ApoE, chr 19 | 5.5 | 192 | 22 | 31 | 0.0005 |
This study | 2001 | psGBA, chr 1 | 5.4 | 100 | 18 | 25 | 0.0004 |
In the cases in which the X or the Y chromosomes were studied, the standardized π (nucleotide diversity) is shown (π values were multiplied by 4/3 or by 4, respectively, to make them comparable to autosomes).
L, length per locus is indicated as number of kilobases sequenced.
n, number of chromosomes.
S, number of segregating sites.
k, number of haplotypes observed.
chr, chromosome.
Nucleotide diversity for fourfold degenerate sites.