TABLE 3

Haplotypes inferred from genetic polymorphism data obtained by sequencing the UGT1A6 exon 1 and 5′-regulatory region in genomic DNA from 54 human livers Haplotypes were inferred using the program PHASE version 2.0.1 (Stephens et al., 2001). n, number of chromosomes evaluated.


UGT1A6 Haplotypeb

UGT1A6 Gene Exon 1 and 5′-Regulatory Region SNPs (bp from Starta)

Number of Variant Alleles

Allelic Frequency (All Livers)
-1710
-1535
-1377
-1310 -1306
-652
-427
19 (S7A)
315
541 (T181A)
552 (R184S)
White (n = 96)
Afr-Am (n = 8)
Hispanic (n = 4)
*1A c g g aggag g g t a a a 38 3 2 0.40
*1B c [a] g aggag g [c] t a a a 20 1 0 0.19
*1C c g g aggag g [c] t a a a 1 1 0 0.02
*1D c [a] [a] aggag g [c] t a a a 1 0 0 0.01
*2 [g] g [a] [–] [a] g [g] [g] [g] [c] 30 2 1 0.31
*3A [g] g [a] [–] [a] g [g] a a a 4 0 1 0.05
*3B [g] g [a] [–] [a] g [g] [g] a a 0 1 0 0.01
*4 [g] g [a] [–] [a] g [g] [g] a [c] 1 0 0 0.01
*5
c
g
g
aggag
g
g
t
a
[g]
a
1
0
0
0.01