AKUdatabase

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Polymorphisms in the HGO gene (Frequencies in the Spanish population)

NOTE: Positions of nucleotide are from the transcription start site as described in Granadino et al. (1997).
ATG is located at position c.168.

Marker

Location

Het.

PIC

Primer sequences

Alleles

Frequency

IVS2+35A/T
(c.254+35A/T)

Intron 2

0.30

0.25

       F: CATATAGGAATTCTTACCTTAGTAAACTGC
      R: GGCAGATCTTTGGCCTGAAAGCTAGTCATCC

A
T

0.82
0.18

HGO-RV
(c.254-218A/T)

Intron 2

0.23

0.20

       F: CTTGAACACCATGGATGTGAGC
      R: CTGTGGCCCAGGGGGAAGGAGGCAGCAC

A
T

0.87
0.13

IVS3-112C/T
(c.343-112C/T)

Intron 3

0.49

0.37

       F: GGAATGAAAAAGTGAGAAGAGGC
      R: CATACAAGATATACAAGCCTTAGAG

T
C

0.55
0.45

IVS3-52A/C
(c.343-52A/C)

Intron 3

0.02

0.02

       F: GGAATGAAAAAGTGAGAAGAGGC
      R: CATACAAGATATACAAGCCTTAGAG

A
C

0.99
0.01

IVS3-50C/T
(c.343-50C/T)

Intron 3

0.06

0.06

       F: GGAATGAAAAAGTGAGAAGAGGC
      R: CATACAAGATATACAAGCCTTAGAG

C
T

0.97
0.03

IVS3-35T/G
(c.343-35T/C)

Intron 3

0.02

0.02

       F: GTTGACTTGAGTGTCTTCCTGATG
      R: CTGAAGGTACAATCCTATACAGCCAG

T
G

0.99
0.01

H80Q
(c.407T/A)

Exon 4

0.34

0.28

       F: ACTCTAAGGCTTGTATATCTTGTAT
      R: TTCCAATGACCATGGTATTC

T
A

0.78
0.22

IVS4+31A/G
(c.449+31A/G)

Intron 4

0.04

 0.04       F: GGCTGTATAGGATTCTACCTTCAG
      R: TTCCAATGACCATGGTATTC

A
G

0.98
0.02

HGO-1
D3S4496

Intron 4

0.20

0.18

       F: GCACCATCCCTGTTGGTACTG
      R: CATGGCTTACATTGCAGGAACAG

161
163

0.89
0.11

HGO-3
D3S4556

Intron 4

0.84

0.82

       F: GGAGGCAACTTTAGGACAAACTTG
      R: CACCCATAAAATTTCCGCTCATCC

175
177
187
189
191
193
195
197
199
201

0.008
0.008
0.085
0.208
0.192
0.200
0.100
0.123
0.062
0.015

IVS4-14insA
(c.450-14insA)

Intron 4

0.02

 0.02       F: GATGCTATTTATTTAGAAGGTC
      R: GGGTGTGGATGGGACTGACTTAC

0
A

0.99
0.01


IVS4-4T/C
(c.450-4T/C)


Intron 4


0.002
0.002
      F: GATGCTATTTATTTAGAAGGTC
      R: GGGTGTGGATGGGACTGACTTAC


T
C


1.00
0.00

IVS5+25T/C
(c.509+25T/C)

Intron 5

0.21

0.19

       F: GATGCTATTTATTTAGAAGGTC
      R: GCTTTTGCTTGGCATTCAGGCTGCAAATGG

T
C

0.88
0.12

IVS6+46C/A
(c.601+46C/A)

Intron 6

0.43

0.34

       F: CATTTTCCTCTGCAATACCTCCAT
      R: CAACTATGTCTGTGCATATGTGAC

C
A

0.69
0.31

IVS9-38InsA
(c.817-38InsA)

Intron 9

0.001

0.001

       F: GTGGATCCGCTCTTGACATGAAAG
      R: CAAGAAATCACGAGGATTGGCC

0
A

1.00
0.00

N278D
(c.999A/G)

Exon 11

0.003

0.003

       F: GGCACGGGAATTATACACCC
      R: CTGTGGATCCCTCCCACCCAAGCG

A
G

1.00
0.00

IVS11+18A/G
(c.1046+18A/G)

Intron 11

0.04

0.04

       F: GGCACGGGAATTATACACCC
      R: CTGTGGATCCCTCCCACCCAAGCG

A
G

0.98
0.02

IVS13+51A/G
(c.1355+51A/G)

Intron 13

0.002

0.002

       F: CTGAGAGGATTGCCGATGGCAC
      R: CTTATGCAGTCATTAACTTTCCTTC

A
G

1.00
0.00

HGO-2
D3S4497

Intron 13

0.88

0.87

       F: CTCCAGCTCCGTCGTGTTCCTG
      R: GACAAATGGATCTAATTAAACTTAAG

173
175
177
179
181
183
185
187
189
191
193
195
197
199

0.023
0.046
0.023
0.116
0.146
0.077
0.085
0.208
0.123
0.100
0.015
0.008
0.015
0.015

1 The allele IVS9-38InsA is in complete linkage desequilibrium with the P230S AKU mutation.
2 Only found in one Algerian normal chromosome.
3 Only found in one Slovak normal chromosome.

 

(See also FIGURE-pol)