BİO610 Inheritance Patterns and Genetic Counseling

5 ECTS - 3-0 Duration (T+A)- . Semester- 3 National Credit

Information

Code BİO610
Name Inheritance Patterns and Genetic Counseling
Term 2024-2025 Academic Year
Semester . Semester
Duration (T+A) 3-0 (T-A) (17 Week)
ECTS 5 ECTS
National Credit 3 National Credit
Teaching Language Türkçe
Level Doktora Dersi
Type Normal
Mode of study Yüz Yüze Öğretim
Catalog Information Coordinator Prof. Dr. AYFER PAZARBAŞI


Course Goal / Objective

Presenting Mendelian and non mendelian inheritance, Prenatal diagnosis and Genetic screening and pedigree analysis, interactions of gene-gene and gene-environment and Genetic Counseling

Course Content

Herediter characteristics and Inheritance Patterns, Mendelian inheritance, Single gene Inheritance Patterns, Autosomal dominant and recessive inheritance, X-linked dominant and recessive inheritance patterns, Expression of X-linked genes, Imprinted X inactivation and Random X inactivation, Y-linked inheritance, Complex and multifactorial inheritance, Mitochondrial inheritance, Mosaicism and chimerism, Genomic (or parental) imprinting and uniparental disomy, Penetrance, expressivity and interactions of gene-gene and gene-environment, Prenatal diagnosis and Genetic screening, Genetic Counseling and Pedigree analysis

Course Precondition

BIO 525 CYTOGENETICS To have taken BIO-502 Basic Medical Genetics courses.

Resources

Chromosome Biology Cytogenetic Basic Rules Medical Genetics

Notes

Basic Principles in Genetics


Course Learning Outcomes

Order Course Learning Outcomes
LO01 The student tells Herediter characteristics and Inheritance Patterns
LO02 The student expresses Mendelian inheritance
LO03 The student lists single gene Inheritance patterns, autosomal dominant and recessive inheritance
LO04 The student distinguishes inheritance patterns
LO05 The student interprets X-linked dominant and recessive inheritance patterns
LO06 The student evaluates expression of X-linked genes
LO07 The student defines X inactivation


Relation with Program Learning Outcome

Order Type Program Learning Outcomes Level
PLO01 Bilgi - Kuramsal, Olgusal To make and interpret Medical Genetics, Molecular Genetics and Cytogenetic analyzes 5
PLO02 Bilgi - Kuramsal, Olgusal To have information about genetic diseases 4
PLO03 Bilgi - Kuramsal, Olgusal To have knowledge of Molecular Cell Biology 5
PLO04 Bilgi - Kuramsal, Olgusal To apply fluorescence in-situ hybridization (FISH) technique 4
PLO05 Bilgi - Kuramsal, Olgusal To make DNA isolation and PCR of all kinds of tissue 2
PLO06 Bilgi - Kuramsal, Olgusal To make cell culture of all kinds of tissue (blood, amniotic fluid, chorionic villus biopsy) 4
PLO07 Bilgi - Kuramsal, Olgusal To do cytogenetic analysis by recognizing human chromosomes separately 2
PLO08 Bilgi - Kuramsal, Olgusal To make QF-PCR and to interpret the results 4
PLO09 Bilgi - Kuramsal, Olgusal To have the knowledge and skills to teach Medical Biology and Genetics Courses in Medical Faculties 2
PLO10 Bilgi - Kuramsal, Olgusal To write and implement a research project on his/her own
PLO11 Bilgi - Kuramsal, Olgusal To write an article by collecting the information obtained at the end of the research
PLO12 Yetkinlikler - Öğrenme Yetkinliği To organize laboratory courses of Medical Biology and Genetics courses at undergraduate level


Week Plan

Week Topic Preparation Methods
1 Herediter characteristics and Inheritance Patterns Literature review and reading Öğretim Yöntemleri:
Anlatım
2 Mendelian inheritance Literature review and reading Öğretim Yöntemleri:
Anlatım
3 Single gene Inheritance Patterns, Autosomal dominant and recessive inheritance Literature review and reading Öğretim Yöntemleri:
Anlatım
4 X-linked dominant and recessive inheritance patterns Literature review and reading Öğretim Yöntemleri:
Anlatım
5 Expression of X-linked genes Literature review and reading Öğretim Yöntemleri:
Anlatım
6 Imprinted X inactivation and Random X inactivation Literature review and reading Öğretim Yöntemleri:
Tartışma
7 Y-linked inheritance Literature review and reading Öğretim Yöntemleri:
Anlatım, Tartışma
8 Mid-Term Exam Preparing an presentation Öğretim Yöntemleri:
Tartışma
9 Complex and multifactorial inheritance Literature review and reading Öğretim Yöntemleri:
Soru-Cevap
10 Mitochondrial inheritance Literature review and reading Öğretim Yöntemleri:
Anlatım
11 Mosaicism and chimerism Literature review and reading Öğretim Yöntemleri:
Anlatım
12 Genomic (or parental) imprinting and uniparental disomy Literature review and reading Öğretim Yöntemleri:
Anlatım
13 Penetrance, expressivity and interactions of gene-gene and gene-environment Literature review and reading Öğretim Yöntemleri:
Anlatım
14 Prenatal diagnosis and Genetic screening Literature review and reading Öğretim Yöntemleri:
Anlatım
15 Genetic Counseling and Pedigree analysis Literature review and reading Öğretim Yöntemleri:
Anlatım
16 Term Exams Preparing multiple choice and classical tests Ölçme Yöntemleri:
Yazılı Sınav
17 Term Exams Preparing multiple choice and classical tests Ölçme Yöntemleri:
Yazılı Sınav


Student Workload - ECTS

Works Number Time (Hour) Workload (Hour)
Course Related Works
Class Time (Exam weeks are excluded) 14 3 42
Out of Class Study (Preliminary Work, Practice) 14 5 70
Assesment Related Works
Homeworks, Projects, Others 1 6 6
Mid-term Exams (Written, Oral, etc.) 1 8 8
Final Exam 1 8 8
Total Workload (Hour) 134
Total Workload / 25 (h) 5,36
ECTS 5 ECTS

Update Time: 26.09.2024 12:00