Table 3 |
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|
|
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|
Locus |
Disease |
Allele |
Hom/Het |
BLAST hits |
Cloning data |
|
|
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|
Leu |
MM/CPEO |
T3250C |
-/+ |
C = 16; A = 1 |
C = 17 |
|
Leu |
CPEO |
C3254T |
+/- |
T = 18; A = 2 |
T = 2, 4 and 17 |
|
Leu |
MELAS |
T3291C |
-/+ |
C = 17 |
C = 2, 4 and 17 |
|
ND1 |
NIDDM; LHON; PEO |
G3316A |
+/- |
A = 17 |
A = 2, 4, 16, 17 |
|
ND1 |
LHON |
G3496T |
+/- |
T = 14; A = 2 |
T = X, 2, 4, 16, & 17 |
|
ND1 |
MELAS |
G3697A |
-/+ |
A = 3; C = 1 |
A = 2 & 4; G = X, 16, 17 |
|
ND1 |
Adult-Onset Dystonia |
A3796G |
-/+ |
G = 6 |
A = 2,4 & 17; G = X & 16 |
|
ADPD/Hearing Loss & |
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|
Gln |
Migrane |
T4336C |
+/+ |
C = 1 |
C = 17 |
|
ND2 |
AD;PD |
G5460T/A |
+/+ |
T = 5; A = 9 |
G = 1 (2); T = 2 |
|
Asn |
CPEO/MM |
G5703A |
-/+ |
A = 24 |
A = 17 |
|
COI |
PCA |
G5913A |
+/- |
A = 18; T = 1 |
G = 1(2); A = 17 |
|
Myogloinuria; Exercise |
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|
CO1 |
Intolerance |
G5920A |
-/+ |
A = 0 |
G = 1 (2); A = 17 |
|
CO1 |
PCA |
G5973A |
+/- |
A = 3 |
G = 1(2); A = 17 |
|
COI |
PCA |
G6081A |
+/- |
A = 1; T = 1 |
G = 1 (2); A = 17 |
|
Ser |
MM/Exercise Intolerance |
G7497A |
+/+ |
A = 14 |
A = 5 |
|
ATP6 |
LDYT |
G8950A |
+/- |
A = 2 |
A = 5 |
|
ATP6 |
Leigh Disease |
T9185C |
-/+ |
C = 1 |
C = 5 |
|
ND4 |
MELAS |
A11084G |
+/+ |
G = 9 |
G = 9 |
|
His |
MICM |
G12192A |
+/- |
A = 9 |
G = 5 (3); A = 2(5) |
|
ND5 |
LHON |
G13708A |
+/- |
A = 15 |
A = 5 & 9 |
|
Paracrystalline Inclusions |
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|
CYTB |
with Exercise Intolerance |
G15497A |
+/- |
A = 2 |
A = 17 |
|
Thr |
Multiple Sclerosis |
G15927A |
+/- |
A = 5 |
G = 5; A = 17 |
|
Type 2 Diabetes; |
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|
D-Loop |
Cardiomyopathy |
T16189C |
+/+ |
C = 0 |
C = 17 |
|
|
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|
Hom: homoplasmy; Het: heteroplasmy;BLAST hits: number of times a unique numt nucleotide location was returned with a BLAST search; Cloning data: designates chromosome(s) location of nucleotide from cloning data; AD: Alzeimer's Disease; ADPD: Alzeimer's and Parkinson's Disease; PD: Parkinson's Disease; CPEO: Chronic Progressive External Opthalmoplegia; PEO: Progressive External Opthalmoplegia; LDYT: Leber's hereditary optic neuropathy and Dystonia; MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes; LHON: Leber's Hereditary Optic Neuropathy; MICM: Maternally Inherited Cardiomyopathy; MM: Mitochondrial Myopathy;NIDDM: Non-Insulin Dependent Diabetes; PCA: Prostate Cancer. |
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|
Parr et al. BMC Genomics 2006 7:185 doi:10.1186/1471-2164-7-185 |
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