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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.