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Table 2 Haplotypes in the UGT1A1 transcriptional regulatory region

From: Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome

type

Number of allele

gtPBREM

Polymorphisms in the region between gtPBREM and TATA box

TATA box

 

JRSa

(100) e

JG7b

(8) e

NCc

(20) e

CGd

(22)e

-3275

-3152

-2951

-2743

-2737

2726

-2724AT[n]

-2473

-1352

-1125

-997

-689

-364

A(TA)nTAA

     

Haplotypes with A(TA)6TAA

I

68

0

11

0

T

G

A

T

T

G

3

T

A

C

G

A

C

6

II

19

0

4

0

G

G

A

T

T

A

>8

G

C

C

A

C

C

6

III

0

0

1

0

T

G

A

T

T

G

3

G

C

C

A

C

C

6

IV

2

0

0

0

T

G

A

T

T

G

3

T

C

C

A

A

C

6

     

Haplotypes with A(TA)7TAA

V

10

8

0

0

G

A*

G*

C*

C*

A*

8*

G*

C*

C

G

C*

T*

7

VI

1

0

3

12

G

A

G

C

C

A

>8

G

C

C

G

C

T

7

VII

0

0

1

5

G

G

G

C

T

A

>8

G

C

C

G

C

T

7

VIII

0

0

0

4

G

G

G

C

C

A

>8

G

C

T

G

C

T

7

IX

0

0

0

1

G

A

G

C

C

A

>8

G

C

T

G

C

T

7

  1. Boldfaces indicate variations.
  2. aJRS, Japanese random subjects; bJG7, Japanese patients with Gilbert syndrome having homozygous A(TA)7TAA; cNC, normal Caucasians; dCG, Caucasian patients with Gilbert syndrome; eNumbers in parentheses indicate the number of total alleles in each group
  3. *Ten linked polymorphisms between gtPBREM and TATA box