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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

(2)

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

Title:

MOLECULAR DIAGNOSTICS Leader:

Dr. István Balogh

(3)

STRUCTURE OF A MOLECULAR GENETIC LABORATORY,

WORKING AREAS, SPECIAL DEVICES AND INSTRUMENTATION.

BIOLOGICAL INFORMATION

István Balogh

Molecular diagnostics - Lecture 1

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

(4)

Organization of the biological information from the perspective of genetics

(5)

TÁMOP-4.1.2-08/1/A-2009-0011

From the gene to the protein

(6)

Consensus sequences of the exon intron boundary

(7)

MUTATIONS, POLYMORPHISMS.

THE GENETIC CODE

István Balogh

Molecular diagnostics - Lecture 2-3

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

(8)

The genetic code

(9)

TÁMOP-4.1.2-08/1/A-2009-0011

Missense mutation

(10)

Nonsense mutation

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TÁMOP-4.1.2-08/1/A-2009-0011

Insertion

(12)

Duplication

(13)

TÁMOP-4.1.2-08/1/A-2009-0011

Deletion

(14)

Frameshift mutation

(15)

SPECIAL MUTATION CONSEQUENCES

István Balogh

Molecular diagnostics - Lecture 4

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

(16)

Nonsense-mediated mRNA decay (NMD)

(17)

TÁMOP-4.1.2-08/1/A-2009-0011

Pathogenic silent mutation

(18)

The use of the codons in humans

(19)

DYNAMIC MUTATIONS

István Balogh

Molecular diagnostics - Lecture 5

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

(20)

Genetic diseases that are caused by expandable repeats

(21)

TÁMOP-4.1.2-08/1/A-2009-0011

Unusual DNA structures caused by expandable repeats

(22)

MENDELIAN INHERITANCE

István Balogh

Molecular diagnostics - Lecture 6

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

(23)

TÁMOP-4.1.2-08/1/A-2009-0011

Autosomal recessive inheritance

(24)

Autosomal dominant inheritance

(25)

TÁMOP-4.1.2-08/1/A-2009-0011

The family tree of a genetic disease inherited in X chromosome recessive way

(26)

The Age of founder mutations

(27)

MULTIFACTORIAL DISEASES

István Balogh

Molecular diagnostics - Lecture 7

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

(28)

Age-related macular degeneration (AMD)

(29)

TÁMOP-4.1.2-08/1/A-2009-0011

Factors involved in the pathogenesis of Alzheimer disease

(30)

One type of familial Alzheimer disease.

Genetics and the consequence of the mutation

(31)

EXAMPLES FOR MONOGENIC DISEASES

István Balogh

Molecular diagnostics - Lecture 8-10

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

(32)

Allelic disorders: one gene, three diseases

(33)

TÁMOP-4.1.2-08/1/A-2009-0011

Linkage analysis for the identification of carrier status

(34)

CFTR protein

(35)

TÁMOP-4.1.2-08/1/A-2009-0011

Monogenic disorders: cystic fibrosis (CF)

(36)

CF. Effect of the p.F508del mutation

(37)

TÁMOP-4.1.2-08/1/A-2009-0011

Structure of the PKHD1 protein

(38)

NPC1 protein

(39)

TÁMOP-4.1.2-08/1/A-2009-0011

Effects of the mutations: NPC1 gene

(40)

Blood coagulation: The protein C / protein S / Factor V system

(41)

TÁMOP-4.1.2-08/1/A-2009-0011

Complementer tests for molecular genetic analysis:

quantifcation of proteins by ELISA

(42)

PHARMACOGENETICS

István Balogh

Molecular diagnostics - Lecture 11

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

(43)

TÁMOP-4.1.2-08/1/A-2009-0011

Drug metabolism and excretion

(44)

Genotype-phenotype associations in the case of CYP2D6

(45)

TÁMOP-4.1.2-08/1/A-2009-0011

Human TPMT mutations

(46)

Pharmacogenetic aspects of vitamin-K cycle

(47)

MOLECULAR TESTING IN ONCOLOGY

Péter Antal-Szalmás

Molecular diagnostics - Lecture 12

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

(48)

From phenotype to genotype

(49)

TÁMOP-4.1.2-08/1/A-2009-0011

DNS isolation using silica microcolumns

(50)

PCR (polymerase chain reaction)

(51)

METHODOLOGY OF THE MOLECULAR DIAGNOSTIC PROCEDURES

István Balogh

Molecular diagnostics - Lecture 13-15

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

(52)

Mutation screening methods: denaturing HPLC (dHPLC)

(53)

TÁMOP-4.1.2-08/1/A-2009-0011

Evaluation of the pathogenicity of mutations:

protein truncation test (PTT)

(54)

Allele-specific PCR

(55)

TÁMOP-4.1.2-08/1/A-2009-0011

Mutation detection using allele-specific oligonucleotide hybridization

(56)

Mutation detection using allele-specific oligonucleotide hybridization for the most common mutations causing cystic fibrosis

(57)

TÁMOP-4.1.2-08/1/A-2009-0011

Mutation detection using oligonucleotide ligation assay

(58)

Detecting mutation using hybridization probes – fluorescence resonance energy transfer

(59)

TÁMOP-4.1.2-08/1/A-2009-0011

Detecting mutation using fluorescently labelled hybridization probes

(60)

Detecting mutation using fluorescently labelled hybridization probes

(61)

TÁMOP-4.1.2-08/1/A-2009-0011

Multiplex Ligation-dependent Probe Amplification (MLPA)

(62)

Different forms of DNA sequencing

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