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Table 1 Haplotype analysis

From: Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

A

           

Family DOA

 

139

141

142

143

144

145

146

147

148

140

Affected

 

1

7

3

2

6

6

11

2

3

3

Unaffected

   

1

   

2

   

SNP

Position

          

rs6796000

188,391,767

T

T

T

T

T

T

T

T

T

T

rs4677728

191,093,560

A

A

A

G

A

A

A

A

A

T

rs4453795

192,094,225

A

A

A

A

A

A

A

G

A

T

rs3905277

192,983,948

A

A

A

A

A

A

A

A

A

T

rs6788448

193,209,428

C

C

C

C

C

C

C

C

C

TC

rs11922359

193,290,262

A

A

A

A

A

A

A

A

A

A

rs9868128

193,299,458

A

A

A

A

A

A

A

A

A

TA

OPA1

193,310,933-193,415,599

          

rs1007408

193,475,519

C

C

C

C

C

C

C

C

C

G

rs11915891

193,488,257

C

C

C

C

C

C

C

C

C

T

rs6770515

193,490,499

A

A

A

A

A

A

A

A

A

A

rs9854346

193,492,100

A

A

A

A

A

A

A

A

A

A

rs9866505

193,676,362

C

C

C

C

C

C

C

C

C

T

rs4677655

194,826,387

T

T

T

C

T

T

T

T

T

T

rs3772109

196,005,479

T

T

T

C

C

T

T

T

T

T

B

           

Family DOA

Position

149

150

151

152

153

154

155

156

157

158

Affected

 

5

2

3

6

2

1

5

3

1

1

Unaffected

  

2

 

1

1

 

3

2

  

SNP

Position

          

rs6796000

188,391,767

T

T

T

T

T

T:T

T

T

T:T

T:T

rs4677728

191,093,560

A

A

A

A

A

G:A

G

G

A:A

G:A

rs4453795

192,094,225

G

GA

A

A

A

A:A

G

G

G:A

A:A

rs3905277

192,983,948

A

G

G

G

G

G:G

G

A

G:A

A:A

rs6788448

193,209,428

T

TC

TC

C

C

C:C

T

T

T:C

T:C

rs11922359

193,290,262

A

A

A

A

A

A:A

T

T

A:A

A:A

rs9868128

193,299,458

A

A

A

A

A

A:A

T

T

A:A

A:A

OPA1

193,310,933-193,415,599

          

rs1007408

193,475,519

C

GC

GC

GC

G

G:C

GC

C

G:G

G:C

rs11915891

193,488,257

C

TC

T

T

TC

T:C

C

C

T:T

T:C

rs6770515

193,490,499

G

G

GC

G

GA

G:G

G

G

G:G

G:G

rs9854346

193,492,100

T

T

T

T

TA

T:T

T

T

T:T

T:T

rs9866505

193,676,362

C

TC

T

T

TC

T:C

C

C

T:T

T:C

rs4677655

194,826,387

TC

TC

TC

C

T

T:C

TC

T

T:T

T:C

rs3772109

196,005,479

T

TC

T

T

T

T:T

T

T

T:T

T:T

  1. Position numbers according to hg19.
  2. A) Analysis of 10 families with c.983A > G mutation in exon 9.
  3. B) Analysis of 10 families with c.2708_2711delTTAG mutation in exon 27.