Departments 
  Clinical Analisys
 
 Molecular Genetic and Hereditary Diseases unit
   
Director:   Dr. José Ignacio Lao
    

ANALYTICAL TECHNIQUES
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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)
      
WORKING AREAS

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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- Down’s 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