AKUdatabase

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HGO haplotypes associated to the AKU mutations

The table shows the allelic associations of eleven HGO intragenic polymorphism for each of the 136 AKU chromosomes characterized thus far in our laboratory. The HGO polymorphic loci ordered from 5’ to 3’ are: INV2+35, INV2-218, INV3-112, Ex4 (c.407), INV4+31, HGO-3, HGO-1, INV5+25, INV6+46, INV11+18 and HGO-2 (Click FIGURE-pol or TABLE-pol to see a detailed description of HGO polymorphisms). AKU chromosomes are grouped by mutations.  The chromosomes are identified by the patient code number followed by a or b (a,b indicates that the patient is HGO homozygote). In very few instances there was no information for the segregation of the alleles and both alleles were included in the haplotype.

 

wpeB.gif (5834 bytes)

INV1-1G® A

A

A

T

T

A

201

161

T

C

A

181

Poland

22a

Beltrán et al., 1999a

A

A

T

T

A

201

161

T

C

A

181

Algeria

43a,b

A

A

T

T

A

201

161

T

C

A

181

Slovakia

54a

Zatkova et al., 2000b

A

A

T

T

A

201

161

T

C

A

181

Slovakia

53c

 Zatkova et al., 2000b

A

A

T
C

T

A

201
189

161

T

C

A

181
187

Slovakia

71a

 Zatkova et al., 2000b
c.198GG® ATT

T

A

C

T

A

191

161

T

A

A

181

France

17a

Beltrán et al., 1998
E42A

A

T

T

A

A

193

161

T

C

A

187

England

8a,b

Beltrán et al., 1998
S47L

A

T

T

A

A

197

161

T

C

A

197

Slovakia

57a

Zatkova et al., 2000b
R53W

A

T

T

A/T

A

193

161

T

C

A

173
191

U.S.A.

45a
R58fs

A

A

T

T

A

193

161

T

C

A

181

India

49a

A

A

T

T

A

197

161

T

C

A

181

Finland

40a,b

Beltrán et al., 1999b

A

A

T

T

A

197

161

T

C

A

181

Slovakia

66a

Zatkova et al., 2000b
W60G

T/A

A

C/T

T

A

195

161

T

A/C

A

179
181

U.S.A.

23b

Beltrán et al., 1999a
Y62C

T

A

C

T

A

191

161

T

A

A

179

France

20a,b

Beltrán et al., 1999a
W97G

T

A

C

T

A

191

161

T

A

A

179

France

14a,b

Beltrán et al., 1998

T/A

A

C

T

A

191
189

161

T

A/C

A

181

Switzerland

19a
INV5+1G® T

T

A

C

T

A

191

161

T

C

A

183

The Netherlands

9a,b

Beltrán et al., 1998
INV5+1G® A

A

T

T

A

A

193

161

T

C

A

187
191

Slovakia

41a

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

G

183

Slovakia

51a,b

 Zatkova et al., 2000b
A122D

A

A/T

T

T/A

A

195

161

T

C

G

183

The Netherlands

25a

Beltrán et al., 1999a
A122V

A

A

T

T

A

193

161

T

C

A

185

India

49b
G152fs

T

A

C

T

A

191

161

T

C

A

187

Italy

28a,b

Porfirio et al., 2000

T

A

C

T

A

191

161

T

C

A

187

France

39a,b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

50a

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

51c

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

55a,b

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

58a

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

60a,b

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

61a

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

187

Slovakia

70a,b

 Zatkova et al., 2000b

A

A

C
T

T

A

189
201

161

T

C

A

187
181

Slovakia

71b

 Zatkova et al., 2000b
D153G

A

A

T/C

T

A

195

161

T

C/A

A

183
181

France

33b

A/T

A/T

T/C

T/A

A

195
191

161

T

C

A

183
187

France

13a

Beltrán et al., 1998

INV7+5G® A

A

A

T

T

A

199

161

T

C

A

187

Italy

27a

Porfirio et al., 2000
G161R

A

T

T

A
T

A

193

161

T

C

A

191
173

U.S.A.

45b

A

T

T

A

A

193

161

T

C

A

191
187

Slovakia

41b

 Zatkova et al., 2000b

A

T

T

A

A

193

161

T

C

A

191

Slovakia

58b

 Zatkova et al., 2000b

A

T

T

A

A

193

161

T

C

A

191

Slovakia

62a,b

 Zatkova et al., 2000b

A

T

T

A

A

193

161

T

C

A

191

Slovakia

63a,b

 Zatkova et al., 2000b

A

A

C

T

A

197

161

T

C

A

191

Slovakia

53d

 Zatkova et al., 2000b

A

A

C

T

A

197

161

T

C

A

191

Slovakia

57b

 Zatkova et al., 2000b

A

A

C

T

A

197

161

T

C

A

191

Slovakia

59a

 Zatkova et al., 2000b

A

A

C

T

A

197

161

T

C

A

191

Slovakia

61b

 Zatkova et al., 2000b

A

A

C

T

A

197

161

T

C

A

191

Slovakia

67a

 Zatkova et al., 2000b
V181F

A

A

T

T

A

189

163

C

A

A

183

France

44a,b
S189I

A

A

C

T

A

189

163

C

A

A

185

Algeria

4a,b

Beltrán et al., 1998
T196fs

A

T

T

A

A

193

161

T

A

A

177

Portugal

46a,b
I216T

A

T

C

A

A

193

161

T

C

A

187

Spain

12a

Beltrán et al., 1998
INV9-56G® A

A

A

T/C

T

A

195

161

T

C

A

181

Italy

10a

Beltrán et al., 1998

A

A

T

T

A/G

195
199

161

T

C

A

181

Italy

11a

Beltrán et al., 1998
INV9-17G® A

A

A

C/T

T

A

189

161

T

C

A

191

Italy

10b

Beltrán et al., 1998
R225H

T

A

C

T

A

191

161

T

A

A

183

Spain

15a

Beltrán et al., 1998

T

A

C

T

A

191

161

T

A

A

179

Spain

15b

Beltrán et al., 1998
F227S

A

A

T

T

A

197

161

T

A

A

181

Spain

16a,b

Beltrán et al., 1998
P230S

T

A

C

T

A

191

163

C

A

A

185

Turkey

3a,b

Beltrán et al., 1998

A

A

T

A

A

191

163

C

A

A

185

Spain

2a

Beltrán et al., 1998

A

A

C

T

A

189

163

C

A

A

185

Spain

1a,b

Beltrán et al., 1998

A

A

C

T

A

189

163

C

A

A

185

Slovakia

64a,b

Zatkova et al., 2000b
P230T

A

A

T

T

A

199

161

T

C

A

181

Spain

18b

Beltrán et al., 1999a
K248R

A

A

T

T

A

197

161

T

A

A

171

Italy

27b

Porfirio et al., 2000
G270R

T

A

C

T

A

195

161

T

C

A

187

Italy

29a,b

Porfirio et al., 2000

A

A

T

T

A

195

161

T

C

A

181

Slovakia

52a

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

53a

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

59b

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

61c

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

66b

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

67b

 Zatkova et al., 2000b

A

A

T

T

A

195

161

T

C

A

181

Slovakia

68a

 Zatkova et al., 2000b
D291E

A

A

C

T

A

193
189

161

T

C

A

175

Spain

21a

Beltrán et al., 1999a

A

A

C

T

A

193

161

T

C

A

175

Portugal

72a,b
H292R

A

A

T

T/A

A/G

199
193

161

T

C

A

187
181

France

33a
V300G

A

A

C

T

A

189

163

C

A

A

187

France

5a

Beltrán et al., 1998

A

A

C

T

A

189

163

C

A

A

187

Germany

6a,b

Beltrán et al., 1998

A

A

C

T

A

189

163

C

A

A

187

Spain

2b

Beltrán et al., 1998

T

A

C

T

A

191

161

T

A

A

187

Slovakia

50b

Zatkova et al., 2000b
R321X

A/T

A

C

T

A

189
191

161

T

C/A

A

181

Switzerland

19b
W322R

A

T

T

T

A

193

161

T

C

A

183

Spain

48a,b
R330S

A

A

C

T

A

191

161

T

A

A

177

Finland

37a,b

Beltrán et al., 1999b
G360R

A

T

T

A

A

193

161

T

C

A

197

Italy

30a,b

Porfirio et al., 2000

A

A/T

A

193

161
163

T/C

C/A

A

197
189

Italy

31a

Porfirio et al., 2000
M368V

A

A

T

T

A

199

161

T

C

A

181

Spain

18a

Beltrán et al., 1999a

A

A

T

T

A

195

161

T

C

A

183

Germany

7a,b

Beltrán et al., 1998

A

A

T

T

A

195

161

T

C

A

183

Finland

38a,b

Beltrán et al., 1999b

A

A

T

T

A

195

161

T

C

A

183

Finland

36a,b

Beltrán et al., 1999b

T

A

T

T

A

195

161

T

C

A

181

France

5b

Beltrán et al., 1998

A

A

T/C

T

A

195

161

T

C/A

A

181
183

France

33c

A

A

T

T

A

195

161

T

C

A

181

Portugal

47a,b

A/T

A

T/C

T

A

195

161

T

C/A

A

181
179

U.S.A

23a

Beltrán et al., 1999a

A

A/T

T

T/A

A

195

161

T

C

A

181

The Netherlands

25b

Beltrán et al., 1999a

A

A

T

T

A

195

161

T

C

A

179

Spain

24a,b

Beltrán et al., 1999a
P370fs

A

A

T

T

G

199

161

T

C

A

179

Slovakia

52b

 Zatkova et al., 2000b

A

A

T

T

G

199

161

T

C

A

179

Slovakia

54b

 Zatkova et al., 2000b

A

A

T

T

G

199

161

T

C

A

179

Slovakia

69a,b

 Zatkova et al., 2000b

A

A

C

T

A

189

161

T

C

A

179

Slovakia

53b

 Zatkova et al., 2000b
H371R

A

A

T

T

A

199

161

T

C

A

189

Finland

35a,b
INV13+1G® T

A

T

T

A

A

195

161

T

C

G

189

Poland

22b
c.1388G® A
A/T A C T A 191
185		 161 T A/C A 189
185		 Algeria 42a

UNKNOWN

A

A

T

T

A/G

199
195

161

T

C

A

181

Italy

11b

Beltrán et al., 1998

T

A

T

T

A

193

161

T

C

A

181

Spain

12b

Beltrán et al., 1998

A

A

C

T

A

189

161

T

C

G

183

France

17b

Beltrán et al., 1998

A/T

A

T/C

T

A

197
191

161

T

C

A

189

Spain

26a

A

A/T

193

163
161

C/T

A/C

189
197

Italy

31b

Porfirio et al., 2000

T

T

A

191

161

T

C/A

A

183

France

32a

A/T

A

C

T

A

191
185

161

T

C/A

A

189
185

Algeria

42b