Ugrás a tartalomhoz

Molecular diagnostics

Dr. István Balogh, Dr. János Kappelmayer, Dr. József Tőzsér (2011)

University of Debrecen

Molecular diagnostics

Molecular diagnostics

Dr.. István Balogh

Dr.. János Kappelmayer

University of Debrecen

“Manifestation of Novel Social Challenges of the European Union in the Teaching Material of Medical Biotechnology Master’s Programmes at the University of Pécs and at the University of Debrecen” Identification number: TÁMOP-4.1.2-08/1/A-2009-0011


List of Figures

1.1. Figure 1.1 Organization of the biological information from the perspective of genetics
1.2. Figure 1.2 From the gene to the protein.
1.3. Figure 1.3 Consensus sequences of the exon intron boundary
2.1. Figure 2.1. The genetic code
2.2. Figure 2.2. Missense mutation
2.3. Figure 2.3. Nonsense mutation
3.1. Figure 3.1. Insertion
3.2. Figure 3.2. Duplication
3.3. Figure 3.3. Deletion
3.4. Figure 3.4. Frameshift mutation
4.1. Figure 4.1. Nonsense-mediated mRNA decay (NMD)
4.2. Figure 4.2. Pathogenic silent mutation
4.3. Figure 4.3. The use of the codons in humans
5.1. Figure 5.1. Genetic diseases that are caused by expandable repeats
5.2. Figure 5.2. Unusual DNA structures caused by expandable repeats
6.1. Figure 6.1. Autosomal recessive inheritance
6.2. Figure 6.2. Autosomal dominant inheritance
6.3. Figure 6.3. The family tree of a genetic disease inherited in X chromosome recessive way
6.4. Figure 6.4. The Age of founder mutations
7.1. Figure 7.1. Age-related macular degeneration (AMD)
7.2. Figure 7.2. Factors involved in the pathogenesis of Alzheimer disease
7.3. Figure 7.3. One type of familial Alzheimer disease. Genetics and the consequence of the mutation
8.1. Figure 8.1. Allelic disorders: one gene, three diseases
8.2. Figure 8.2. Linkage analysis for the identification of carrier status
9.1. Figure 9.1. CFTR protein
9.2. Figure 9.2. Monogenic disorders: cystic fibrosis (CF)
9.3. Figure 9.3. CF. Effect of the p.F508del mutation
10.1. Figure 10.1. Structure of the PKHD1 protein
10.2. Figure 10.2. NPC1 protein
10.3. Figure 10.3. Effects of the mutations: NPC1 gene.
10.4. Figure 10.4. Blood coagulation: The protein C / protein S / Factor V system
10.5. Figure 10.5. Complementer tests for molecular genetic analysis: quantifcation of proteins by ELISA
11.1. Figure 11.1. Drug metabolism and excretion
11.2. Figure 11.2. Genotype-phenotype associations in the case of CYP2D6
11.3. Figure 11.3. Human TPMT mutations
11.4. Figure 11.4. Pharmacogenetic aspects of vitamin-K cycle
12.1. Figure 12.1. From phenotype to genotype
12.2. Figure 12.1. DNS isolation using silica microcolumns
12.3. Figure 12.3. PCR (polymerase chain reaction)
13.1. Figure 13.1. Mutation screening methods: denaturing HPLC (dHPLC)
13.2. Figure 13.2. Evaluation of the pathogenicity of mutations: protein truncation test (PTT)
14.1. Figure 14.1. Allele-specific PCR
14.2. Figure 14.2. Mutation detection using allele-specific oligonucleotide hybridization
14.3. Figure 14.3. Mutation detection using allele-specific oligonucleotide hybridization for the most common mutations causing cystic fibrosis.
15.1. Figure 15.1. Mutation detection using oligonucleotide ligation assay
15.2. Figure 15.2. Detecting mutation using hybridization probes - fluorescence resonance energy transfer
15.3. Figure 15.3. Detecting mutation using fluorescently labelled hybridization probes
15.4. Figure 15.4. Detecting mutation using fluorescently labelled hybridization probes
15.5. Figure 15.5. Multiplex Ligation-dependent Probe Amplification (MLPA)
15.6. Figure 15.6. Different forms of DNA sequencing