Mitochondrial Molecular Tests

( 线粒体分子检测)


Disease OMIM Gene / Mutation
ALZHEIMER DISEASE . MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
ATAXIA, CATARACT AND DIABETES MELLITUS
RETINITIS PIGMENTOSA-DEAFNESS SYNDROME
  MTTS2 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 2)
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS   MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE)
CARDIOMYOPATHY   590050   C3254G
A3260G
C3303T
CARDIOMYOPATHY 590050 MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S)
CARDIOMYOPATHY 590050 MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE)
CARDIOMYOPATHY 590050 MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE)
CARDIOMYOPATHY 590050 MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE)
CARDIOMYOPATHY 590050 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
CARDIOMYOPATHY 590050 MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2)
CARDIOMYOPATHY AND DEAFNESS   MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
CARDIOMYOPATHY, INFANTILE XANTHOMATOUS
CARDIOMYOPATHY, FOCAL LIPID
CARDIOMYOPATHY, ONCOCYTIC
FOAMY MYOCARDIAL TRANSFORMATION OF INFANCY
500000 MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
CHLORAMPHENICOL RESISTANCE   MTRNR2(RIBOSOMAL RNA, MITOCHONDRIAL, 16S)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND2 (COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2NADH DEHYDROGENASE, SUBUNIT 2)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND3 (COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3NADH DEHYDROGENASE, SUBUNIT 3)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5)
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
NADH:Q(1) OXIDOREDUCTASE DEFICIENCY
NADH-COENZYME Q REDUCTASE DEFICIENCY
MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX 1, DEFICIENCY OF
252010 MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6)
COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF 124000 MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
CYTOCHROME c OXIDASE DEFICIENCY
COX DEFICIENCY
220110 MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1)
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
CYTOCHROME c OXIDASE DEFICIENCY
COX DEFICIENCY
220110 MTCO2 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 2, CYTOCHROME c OXIDASE 2; COX2)
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
CYTOCHROME c OXIDASE DEFICIENCY
COX DEFICIENCY
220110 MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3)
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) . 4977 bp Deletion
A3243G
T3250C
G3316A
T4274C
T4285C
G4298A
G4309A
T5628C
A5692G
G5703A
G8342A
A12308G
T12311C
G12315A
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA)   MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA)   MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA)   MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE)
CYTOCHROME c OXIDASE DEFICIENCY 220110 MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1)
DEAFNESS    . A1555G
7472insC
T7511C
A7445G
961delT/insC
T961G
T1095C
C1494T
A827G
T1005C
T1291C
T1243C
A1116G
All 10 mutations in the MTRNR1 and MTTS1 genes associated with non-syndromic hearing loss : A1555G, 961delT/insC, T961G, T1095C, C1494T,
A827G, T1005C, T1291C,T1243C and A1116G
DEAFNESS   MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S)
DEAFNESS, AMINOGLYCOSIDE-INDUCED 580000 MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S)
DEAFNESS AND MIGRAINE   MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE)

DEAFNESS AND DIABETES

. A3243G
DEAFNESS AND DIABETES   MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
DEAFNESS AND PIGMENTARY RETINOPATHY   MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE)
DYSTONIA, ADULT-ONSET   MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
LEBER OPTIC ATROPHY AND DYSTONIA
MARSDEN SYNDROME
500001 MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4)
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES
LEBER OPTIC ATROPHY AND DYSTONIA
MARSDEN SYNDROME
500001 MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6)
ENCEPHALOMYOPATHY   MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
ENCEPHALOMYOPATHY   MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
ENCEPHALOMYOPATHY   MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2)
ENCEPHALOMYOPATHY   MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN)
ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING   MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE)
EXERCISE INTOLERANCE   MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
EXERCISE INTOLERANCE   MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE)
EXERCISE INTOLERANCE AND COMPLEX 3 DEFICIENCY   MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE)
EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA   MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY   MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE)
HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA 500005 MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE)
KEARNS-SAYRE SYNDROME (KSS) 530000 4977 bp Deletion
KEARNS-SAYRE SYNDROME (KSS) 530000 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
DEAFNESS, NONSYNDROMIC SENSORINEURAL
148350 MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1)

LEBER HEREDITARY OPTIC NEUROPATHY (LHON)

535000 MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTND2 (COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2NADH DEHYDROGENASE, SUBUNIT 2)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000 MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) 535000             G3460A
G11778A
C3275A
G3316A
T3394C
T4216C
G7444A
T9101C
G13708A
T14484C
G14459A
G15257A
10 MUTATIONS: C3275A,
G3316A,
T3394C,
T4216C,
G7444A,
T9101C,
G13708A,
G14459A,
T14484C,
G15257A
LEIGH SYNDROME 256000 MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6)
LEIGH SYNDROME 256000 MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3)
LEIGH SYNDROME 256000 MTND3 (COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3NADH DEHYDROGENASE, SUBUNIT 3)
LEIGH SYNDROME 256000 MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5)
LEIGH SYNDROME 256000 MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6)
LEIGH SYNDROME 256000 MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
LEIGH SYNDROME 256000 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
LEIGH SYNDROME 256000 MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE)
LEIGH SYNDROME 256000 MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN)
LEIGH SYNDROME 256000 T8993C
T8993G
C1177A
C1624T
T9176C
T9176G
9537insC
A13084T
G13513A
G14459A
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES)        540000            A3271G
T8356C
A13084T
G13513A
C3093G
A3252G
C3256T
A3260G
T3291C
T3308C
A13514G
7 MUTATIONS:
C3093G,
A3252G,
C3256T,
A3260G,
T3291C,
T3308C,
A13514G
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6)
MELAS SYNDROME(MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) 540000 MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) 545000 T8356C
A8344G
A8296G
G8363A
MULTISYSTEM DISORDER   MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
MULTISYSTEM DISORDER   MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE)
MYELODYSPLASTIC SYNDROME   MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
MYOGLOBINURIA, RECURRENT   MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1)
MYONEURAL GASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME, MNGIE SYNDROME
  MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE)
MYOPATHY 251900 MTTC (TRANSFER RNA, MITOCHONDRIAL, CYSTEINE)
MYOPATHY 251900 MTTD (TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID)
MYOPATHY   MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
MYOPATHY 251900 MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2)
MYOPATHY 251900 MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE)
MYOPATHY 251900 MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE)
MYOPATHY 251900 MTTR (TRANSFER RNA, MITOCHONDRIAL, ARGININE)
MYOPATHY 251900 MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN)
MYOPATHY                  251900 T618C
A3243T
T3250C
A3251G
C3254G
A3259G
A3261G
A3266G
A3268G
A3288G
A3302G
4370insC
T4409C
G4450A
G5521A
A12320G
G15762A
C15990T
MYOPATHY, MYOTONIC DYSTROPHY-LIKE 590000 MTTA (TRANSFER RNA, MITOCHONDRIAL, ALANINE)
MYOPATHY, WITH DIABETES MELLITUS
MITOCHONDRIAL MYOPATHY, LIPID TYPE
500002 MTTE (TRANSFER RNA, MITOCHONDRIAL, LUTAMIC ACID)
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) 551500 MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6)
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) 551500 T8993C
T8993G
NEONATAL DEATH   MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE)
NEUROGASTROINTESTINAL SYNDROME   MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN)
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT   MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
NO DISEASE   MTATP8 (ATP SYNTHASE 8, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 8, ATP8)
NO DISEASE   MTTM (TRANSFER RNA, MITOCHONDRIAL, METHIONINE)
OBESITY 601665 MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
OPHTHALMOPLEGIA   MTTN (TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE)
PARKINSON DISEASE 168600 MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
PARKINSON DISEASE 168600 MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE)
PARKINSON DISEASE 168600 MTTT (TRANSFER RNA, MITOCHONDRIAL, THREONINE)
PARKINSONISM / MELAS OVERLAP SYNDROME   MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT)
SEIZURES AND LACTIC ACIDOSIS   MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6)
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC   MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1)
STRIATONIGRAL DEGENERATION, INFANTILE
BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL
256000 MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6)
SUDDEN INFANT DEATH SYNDROME 272120 MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1)
SUDDEN INFANT DEATH SYNDROME 272120 MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE)
SUDDEN INFANT DEATH SYNDROME 272120 MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1)
Screening for 9 Mitochondrial Mutations:
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA)
KEARNS-SAYRE SYNDROME (KSS)
LEBER HEREDITARY OPTIC NEUROPATHY (LHON)
LEIGH SYNDROME
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES)
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS)
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA)
  9 Mutations:
4977 bp Deletion,
G3460A,
G11778A,
T8993C,
T8993G,
A3271G,
A3243G,
T8356C,
A8344G

 


 


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