Genetics Lectures

OBLIGATORY AND ELECTIVE COURSES

MSc Courses:

SEMINAR course code  Old: GEN100 New: GNTK7001

BASIC MEDICAL GENETICS course code Old: GEN101  New: GNTK7002

Introduction to Human Genetics
Testing strategies and methods for genetic disorders
Mendelian Inheritance (autosomal dominant, autosomal recessive, X-linked recessive and X-linked dominant inheritance patterns)
Factors responsible from variable expresivity and penetrance
Non-clasic ınheritance; mitochondrial inheritance, mozaism, uniparental disomy and genomic impinting,
Multifactorial inheritance and its basic principles
Molecular and biochemical aspects of genetic disorders
Treatment modalities in genetics
Genetics of immune system
Cancer Genetics
Developmental Genetics and its main concepts

INTRODUCTION TO MOLECULAR GENETICS course code  Old: GEN111  New: GNTK7003

Structure of nucleic acids, replication, transcription, protein biosynthesis, control of gene expression, recombinant DNA technology, methods of making recombinant DNA molecules, isolation of cloning genes, selection of recombinants clones, identification of cloning genes, expression of cloning genes, gene function analysis, recombinant DNA in medicine and industry, model of immune system, oncogenes, anti-oncogenes, molecular analysis of cell cycle, isolation and mapping of disease genes, genome project and model organisms, human genome Project

INTRODUCTION TO CYTOGENETICS course code Old: GEN113 New: GNTK7004

MOLECULAR GENETICS course code Old: GEN112  New: GNTK7005

DNA structure, chromosome structure, gene structure, mutations, messenger RNA, protein synthesis, genetic code, DNA replication, recombination and repairing, transcription, RNA splicing, recombinant DNA technology, gene cloning, bioinformatics

GENETIC COUNSELING course code  Old: GEN114  New: GNTK7006

The importance of genetic counselling and its Basic concepts
Genetic counselling in single gene disorders
Genetic counselling in non-classic, non-mendelian and multifactorial diseases
Genetic counselling in chromosomal disorders
Genetic counselling for consanguinity
Genetic counselling in neurodevelopmental disorders
Genetic counselling for congenital malformation syndromes

PhD Courses:

BASIC GENETIC TECHNIQUES course code Old: GEN208 New: GNTK9007

Students undertake lab rotations and they are responsible for theoretical and practical knowledge of the lab work; DNA isolation, gel electrophoresis, imaging, karyotyping, clinical consultation

ADVANCED CYTOGENETIC TECHNIQUES course code  Old: GEN213 New: GNTK9008

SEMINAR course code  Old: GEN200  New: GNTK9013

CHROMOSOMAL DISEASES course code  Old: GEN210  New: GNTK9009

MENDEL AND NON-MENDEL DISEASES course code  Old: GEN211  New: GNTK9010

Clinical characteristics and genetic pathogenesis of Mendelian and non-Mendelian disorders

ADVANCED MOLECULAR GENETICS course code  Old: GEN212  New: GNTK9011

DNA, Gene structure (*DNA sequencing and genotyping: Standart techniques, automatic DNA sequencing, microarray based DNA sequencing, sequencing with using RFLP (restriction length polymorphysim) and STR (simple tandem repeats); *Gene identifying by cloning: Exon trapping, cDNA, RACE-PCR, mapping of transcription sites and determination of exon-intron borders; *Working with gene expression:
Homology research data banks, obtain antibody Human Genome Organization, an overview of the human genome organization (*An overview of human genome organization: copy number variations, the limited autonomy of the mitochondrial genome, DNA methylation and CpG islands; *organization, distribution and functions of human RNA genes: rRNA, tRNA, snRNA, snoRNA, miRNA, non-coding RNA…; human genome organization for polypeptide coding genes, non coding tandem repeats (Satellite, minisatellite, microsatellite), interspersed non coding repeats (LINE1, SINEs, pseudogenes, retrogenes, alu repeats)
Gene expression in human
(* An overview of gene expression: segmental restriction of gene expression; alternative transcription and translation; differential gene expression; epigenetic mechanisms, such as DNA methylation; imprinting and long range regulation of gene expression: differences between maternal and parental genome (non-equivalance), X-chromosome inactivation; *Ig and TCR gene organization and expression.
Genetic Mapping of Mendelian characters.
(* Recombinant and non recombinant; genetic markers ( development of the human genetic markers, informative and non informative meiosis; two-point mapping: Lod score calculation; *advantages of multipoint mapping: calculating Bayesian threshold; deep mapping, extended family tree and parental haplotypes
Mapping of human disease genes.
(* Principles and strategies in identifying disease genes: Positional cloning, using chromosomal abnormalities, finding candidate genes (using CGH for identification of submicroscopic chromosomal imbalance) Eight different examples on identification of disease genes (Sotos, Treacher Collins, Bronchio-Oto-Renal Syndrome, rhodopsin and fibrillin, Waardenbur Syndrome, Fanconi anemia, Sağırlıkta myosin 15 with deafness, DFNB3, otoferlin )

CURRENT TOPICS IN GENETICS course code  Old: GEN219  New: GNTK9012

topical subjects in medical genetics

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