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Table 1 RFLP and Control-Region mtDNA Haplotypes from the French OPA1 mutation carrier

From: OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

patient

super haplogroup

haplogroup

POLYMORPHISM OBSERVED BETWEEN POSITION 16050–16569 AND 1–205

RFLP

1421

R0

H

16519T>C, 195T>C

-7025AluI

1043

R0

H

16519T>C, 146T>C

-7025AluI

1659

R0

H

16519T>C

-7025AluI

1148

R0

H

16519T>C

-7025AluI

1284

R0

H

16311T>C, 16519T>C

-7025AluI

1090

R0

H

16235A>G, 16291C>T, 16293A>G, 16400C>T

-7025AluI

1428

R0

H

16189T>C, 16194-del, 16519T>C

-7025AluI

1568

R0

H

16188C>T, 16295C>T, 16519T>C, 150C>T

-7025AluI

1344

R0

H

16188C>G, 16189T>C, 16264C>T, 16311T>C, 16519T>C

-7025AluI

1267

R0

H

16129G>A, 16264C>T, 16316A>G, 16519T>C, 195T>C

-7025AluI

1366

R0

H

16086T>C, 16189T>C,16519 T>C

-7025AluI

1091

R0

H1a

16162A>G, 16274G>A, 16519T>C, 73A>G

-7025AluI

1163

R0

H1b

16183A>C, 16189T>C, 16291C>T, 16356T>C, 16519T>C, 152T>C

-7025AluI

1531

R0

H5

16184C>T, 16304T>C, 16519T>C

-7025AluI

1686

R0

H5

16243T>C, 16304T>C, 152T>C

-7025AluI

1505

R0

H5

16304T>C, 16519T>C, 146T>C

-7025AluI

1054

R0

H11

16293A>G, 16519T>C

-7025AluI

1032

R0

preV (HV0)

16298T>C, 72T>C

+4577NlaIII, +7025AluI

1620

R0

V (HV0)

16298T>C, 72T>C, 195T>C, 198C>T

+4577NlaIII, +7025AluI

1697

R0

V (HV0)

16298T>C, 16311T>C, 72T>C, 195T>C

-4577NlaIII, +7025AluI

1332

JT

J

16069C>T, 16126T>C, 73A>G, 185G>A

+4216NlaIII; -13704BstOI,+7025AluI

1743

JT

J

16069C>T, 16126T>C, 73A>G, 185G>A

+4216NlaIII; -13704BstOI,+7025AluI

1779

JT

J

16069C>T, 16126T>C, 73A>G, 185G>A

+4216NlaIII; -13704BstOI,+7025AluI

1464

JT

T

16126T>C, 16153G>A, 16294C>T, 16519T>C, 41C>T, 73A>G, 150C>T, 200A>G

+4216NlaIII;+13704BstOI,+7025AluI

1099

JT

T1

16126T>C, 16163A>G, 16186C>T, 16189T>C, 16294C>T, 16519T>C, 73A>G, 152T>C, 195T>C

+4216NlaIII;+13704BstOI,+7025AluI

1763

JT

T2

16126T>C, 16294C>T, 16296C>T, 16304T>C, 16519T>C, 73A>G, 195T>C

+4216NlaIII;+13704BstOI,+7025AluI

1348

U

U3

16343A>G, 16390G>A, 16519T>C, 73A>G, 150C>T

-12308HinfI,+7025AluI

1106

U

U4

16111C>T, 16140T>C, 16356T>C, 16362T>C, 16519T>C, 73A>G, 146T>C, 152T>C, 195T>C

-12308HinfI,+7025AluI

1291

U

U5

16192C>T, 16256C>T, 16270C>T, 16291C>T, 16399A>G, 16519T>C, 73A>G

-12308HinfI,+7025AluI

1742

U

U5 or U4

16270C>T, 16356T>C, 16519T>C, 73A>G, 152T>C, 195T>C

-12308HinfI,+7025AluI

1363

U

U6

16172T>C, 16219A>G, 16261C>T, 16311T>C, 16361G>A, 73A>G

-12308HinfI,+7025AluI

1278

U

K

16093T>C, 16224T>C, 16311T>C, 16519T>C, 73A>G

-12308HinfI,+7025AluI

1455

U

K

16093T>C, 16224T>C, 16311T>C, 16519T>C, 73A>G

-12308HinfI,+7025AluI

1587

U

K

16064T>K, 16129G>A, 16224T>C, 16311T>C, 16519T>C, 73A>G, 180T>Y

-12308HinfI,+7025AluI

1799

U

K

16224T>C, 16311T>C, 16519T>C, 73A>G, 146T>C, 152T>C

-12308HinfI,+7025AluI

1887

U

K

16213G>A, 16224T>C, 16311T>C, 16519T>C, 73A>G, 146T>C

-12308HinfI,+7025AluI

1426

other

D (M)

16260C>T, 16261C>T, 16266C>T, 16301C>T, 16311T>C, 16319G>A, 16362T>C, 16527C>T, 64C>T, 73A>G, 195T>C

+7025AluI

1358

other

W

16083C>T, 16223C>T, 16292C>T, 16519T>C, 73A>G, 106G>A, 189A>G, 195T>C, 204T>C

+7025AluI

1588

other

W

16192C>T, 16223C>T, 16292C>T, 16325T>C, 16519T>C, 73A>G, 189A>G, 194C>T, 195T>C, 204T>C

+7025AluI

1759

other

X

16189T>C, 16194delA, 16223C>T, 16278C>T, 16519T>C, 73A>G, 153A>G, 195T>C

+7025AluI

1512

other

X

16189T>C, 16192C>T, 16223C>T, 16278C>T, 16519T>C, 73A>G, 153A>G, 195T>C

+7025AluI