Haplogroup Markers
www.mitomap.org
Nucleotide positions for RFLPs represent the first base of the recognition sequence in the top strand, not the actual cut site. 
"-" = enzyme site absent, "+" = enzyme site present
All diagnostic markers are indexed to the rCRS, NC_012920.

Haplogroup Diagnostic RFLP site* Diagnostic SNP
The rCRS nucleotide is on the left of the SNP position, the diagnostic value is on the right.
HVS1 motif
All sites are transtions except where indicated.
L0, L1, L2 +3592h C3594T no specific sites
L3 -3592h C3594C no specific sites
M +10397a (+10394c) C10400T + A10398G no specific sites
N -10397a and +10871z C10400C + A10398A and T10873T no specific sites
M subgroups:      
C +13262a (-13259o) A13263G 16223 16327 16298
D -5176a C5178A 16223 16362
E -13619x C13626T 16362 16390
G +4830n (+4831f) A4833G 16223 16278 16362
Q no RFLP A5843G 16129 16241 16311
Z no RFLP T9090C 16185 16223 16260 16298
N/R subgroups:      
R +12704j C12705C 16223C (=CRS)
B 8281-8289 nps 9bp del 8280:8290 =A[delCCCCCTCTA]G 16183C 16189 16217
F -6389y T6392C 16304
P no RFLP T10118C no specific sites
HV-group -14766u C14766C 16278 16311
H -7025a C7028C no specific sites
V -4577q G4580A 16298
TJ-group +4216q T4216C 16126
J -13704t G13708A 16069 16126
T +4914r A4917G 16126 16294
UK-group
(U and Uk)
+12308g A12308G no specific sites
Uk
(formerly known as K)
+12308g and -9052d (-9053f) A12308G and G9055A 16224 16311
N/non-R subgroups:      
A +663e A663G 16223 16290 16319 16362
I -4529n A4529T and T10034C 16129 16223 16391
S no RFLP T8404C no specific sites
W no RFLP A11947G 16223 16292
X no RFLP C6371T 16183C 16189 16223 16278
Y -8391e G8392A 16126

* Enzyme Codes & Recognition Sequence

a, AluI
AGCT
b, AvaII
GG(A/T)CC
c, DdeI
CTNAG
d,  HaeII
(A/G)GCGC(C/T)  
 
e, HaeIII
GGCC
f, HhaI
GCGC
g, HinfI
GANTC
h, HpaI
GTTAAC
i, MspI
CCGG
j, MboII
GAAGA
k, RsaI
GTAC
l, TaqI
TCGA
m, BamHI
GGATCC
n, HaeII
(A/G)GCGC(C/T)
o, HincII
GT(C/T)(A/G)AC
p, BstOI
CC(A/T)GG
q, NlaIII
CATG
r, BfaI
CTAG
 
s, AccI
GT(A/C)(G/T)AC
t, BstNI
CC(A/T)GG
u, MseI
TTAA
v,   - w,   -    x, HphI
GGTGA
y,  Tsp509I
AATT
z, MnlI
CCTC

 


Estimated Worldwide Haplotype Frequencies (%)
Compiled for Mitomap by O. Derbeneva 2009
Please note: These numbers are for illustrative purposes, not for solid calculations.
They are simple means from published frequencies and not always have all haplogroups been typed.
Frequencies ≥ 20% are bolded; frequencies ≥10% are highlighted.

REGION A B C D E F G H I J K L M N R S T U V W X Y Z n.d.
Africa

 

 

 

 

 

 

 

17

0

5

2

46

3

1

0

 

4

15

3

0

1

 

 

3

Middle East

1

<0.5

1

1

 

0

0

22

2

13

5

6

2

4

1

0

9

15

1

2

3

0

0

13

South East Asia

 

13

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

87

Australia and Oceania

 

23

 

 

 

 

 

 

 

 

 

1

7

48

7

 

 

 

 

 

 

 

 

14

West Europe

 

 

 

1

 

0

 

41

2

9

5

1

1

1

0

 

8

18

7

2

2

 

0

3

East Europe

1

<0.5

2

2

 

1

1

35

2

8

4

 

2

1

1

 

11

22

3

1

1

0

1

-

Caucasus

1

<0.5

4

4

 

1

 

23

2

7

6

0

1

3

3

 

10

22

1

2

4

 

0

7

Central Asia

7

5

12

15

 

5

5

15

1

3

1

0

6

2

1

 

6

10

0

2

0

1

2

3

East Asia

7

16

5

26

0

11

4

1

 

1

 

 

15

3

2

 

0

<0.5

 

0

 

1

2

7

Siberia

8

3

30

19

0

4

5

4

0

2

0

 

3

3

1

1

2

6

0

0

0

4

1

5

North America

43

23

18

10

1

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

3

 

 

2

South and Central Americas

28

27

21

19

1

 

 

 

 

 

 

2

 

 

 

 

 

 

 

0

 

 

 

2

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Topic revision: r6 - 24 Mar 2014 - 16:48:29 - MarieLott
 
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