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| Molecular
Genetic and Hereditary Diseases unit |
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Director:
Dr.
José Ignacio Lao
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- Genetic amplification by PCR: qualitative and quantitative
- Real-Time PCR
- MSP (specific PCR amplification of methylated DNA)
- RFLP (Restriction Fragments Length Polymorphism)
- SSCP (Single Stranded Conformation Polymorphism)
- SNPs (Single Nucleotide Polymorphisms)
- DNA Chips
- DNA sequencing
- Gene fragment cloning
- Flow Cytometry
- Cell culture:
.Nucleic acid sequencing
.Microsatellite instability studies
.Nucleic acid Hybridisation:
- Northern blot
(RNA)
- Southern blot
(DNA)
NEUROGENETIC,
MONOGENIC AND HEREDITARY METABOLIC DISEASES |
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- Primary degenerative dementia
- Hereditary Polyneuropathies
- Movement disorders
- Mitochondrial Encephalopathies
- Hereditary Mental Retardation syndromes
- Hereditary Myopathies
- Hereditary Hemochromatosis
- Cystic Fibrosis or mucoviscidosis
- Tay-Sachs Disease
- Phenylketonuria
- Homocysteine
HUMAN ANEUPLOIDIES |
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- Downs Syndrome detection by QF-PCR
- Chromosome 18 Trisomy by QF-PCR
- Chromosome 13 Trisomy by QF-PCR
- Human Aneuploidy detection in sex chromosomes by QF-PCR
ASSESSMENT OF GENETIC RISK TO COMMON
DISEASE |
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- Vascular disease (cerebrovascular disease, cardiovascular disease,
peripheral vascular disease)
- Osteoporosis
- Arterial Hypertension
- Coronary heart disease
- Chronic Obstruction Pulmonary Disease
- Mellitum Diabetes
- Celiac Disease
HAEMATOLOGICAL DISEASES |
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- Thrombophilias
- Alfa and beta Thalassemias hemoglobinopaties
ONCOLOGICAL DISEASES |
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- - Solid Tumours and Haematological Tumours
- Study of Oncogenes, Tumour Supressor Genes and DNA Repair Genes,
as prognostic, diagnostic and follow-up factors:
.Quantification
of gene expression
.Mutation
pattern studies
.Determination
of gene amplification
.Study
of inherited disorders
.Minimal
Residual Disease
.Gene
rearrangement identification
PHARMACOGENETICS STUDIES |
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- Cytochromo P450 complex:
.CYP2D6
.CYP2C19
.CYP3A5
- Acetylation:
.NAT2
- Antidementia drugs:
.APOE
- Antihypertensive drugs:
.ACE
- Estrogen replacement therapy:
.COMT
- Hyperhomocysteinemia:
.MTFHR
.CBS
.MS
- Beta-Adrenergic receptor Snps
.Arg16Gly: Beta adrenergic agonists
.Gln27Glu: Obesity
- Specific inhibitors of Tyrosine Kinases:
.bcr/abl: Molecular Responses to Imatinib
| FORENSIC GENETICS |
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- Paternity Testing
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