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Table 3.

Summary of Human Nuclear Sequence Variation Studies

Authors	Year	Region	[ii]L	[iii]n	[iv]S	[v]k	π
Hey	1997	PDHA1, X chr[vi]	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

[i] 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).

[ii] L, length per locus is indicated as number of kilobases sequenced.

[iii] n, number of chromosomes.

[iv] S, number of segregating sites.

[v] k, number of haplotypes observed.

[vi] chr, chromosome.

[vii] Nucleotide diversity for fourfold degenerate sites.