Gilbert’s syndrome: High frequency of the (TA)7 TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 gene

Table 1 DNA sequence variations observed among Gilbert’s syndrome patients and normal controls

Location of variant andnucleotide position (np)	Description of variant1	Genotype/Allele frequency (p)	Patients (%)	Control (%)
UGT1*1 promoter	CAT insertion	Insertion/Insertion	3	0
nps -85 to -83		Insertion/non-insertion	6	0
		Non-insertion/non-insertion	86	95
		p(Insertion)	0.063	0.000
UGT1*1 promoter	G→C	GG	93	95
np -63		GC	2	0
		p(C)	0.011	0.000
UGT1*1 promoter	(TA)6 TAA→	(TA)6 TAA /(TA)6 TAA	4	32
nps -53 to -38	(TA)7 TAA	(TA)7 TAA /(TA)6 TAA	15	53
		(TA)7 TAA/(TA)7 TAA	76	10
		p[(TA)7 TAA]	0.879	0.384
Exon 1	G→A	GG	85	90
np +211	(G71R)	GA	9	5
		AA	1	0
		p(A)	0.058	0.026
Exon 1	T→C	TT	93	94
np +476	(I159T)	TC	2	1
		p(C)	0.011	0.005
Exon 1	T→C	TT	94	95
np +625	(R209W)	TC	1	0
		p(C)	0.005	0.000
Exon 2	C→G	CC	95	66
np +6 844	(A321G)	CG	0	29
		p(G)	0.000	0.152
Exon 2	A→G	AA	87	89
np +6 846	(I322V)	AG	7	6
		GG	1	0
		p(G)	0.042	0.032
Exon 3	G→A	GG	94	95
np +7 640	(D359N)	GA	1	0
		p(A)	0.005	0.000
Exon 4	C→T	CC	93	95
np +7 939	(P364L)	CT	2	0
		p(T)	0.011	0.000
Exon 4	A→G	AA	92	95
np +7 975	(H376R)	AG	3	0
		p(G)	0.016	0.000

¹Amino acid changes resulting from nucleotide changes in the exons are indicated in parentheses.