Medical Genetics





Course Specification

Medical genetics  MDL-476


1433/1434

Course Specification

Institution: Majmaah University

College/Department: College ofScience in AlZulfi,

Medical Laboratories Department

A- Course Identification and General Information

1.  Course title and code: Medical genetics (MDL-476)

2.  Credit hours: 3 hours (2 h. Theory lectures + 2 h. Laboratory sessions)

4.  Name of faculty member responsible for the course: Dr. Alaa-Eldin Salah-Eldin

Abd-Elwahab Amin

5.  Level/year at which this course is offered: 7th Level

6.  Co-requisites for this course (if any): Biology (PBIO – 126)

7.  Location if not on main campus: Faculty of Science at Al-Zulfi –

MedicalLaboratoriesBuilding

B- Objectives

1. Summary of the main learning outcomes for students enrolled in the course.

This course aims at give a summarized idea about principles of medical genetics and its applications in health and disease through studying chromosomal map, genetic control of cell functions, mutations, and diseases resulting from chromosomal aberrations, Mendelian disorders and multifactorial disorders.

Also it deals with modern techniques and laboratory tests to diagnosis genetic diseases, genetic engineering and genetic counseling.

C-  Course Description  (Note:  General description in the form to be used for the Bulletin or Handbook should be attached)

1. Topics to be Covered

List of Topics

No of

Weeks

Contacthours

- Define chromosome, chromosomal map, genes and chromosomal aberrations and mutation.

Chromosomes and Karyotype

o DNA replication

2

8

Explain genetic control of cell function and protein synthesis.

- Genes to Phenotype

o Transcription

o Translation

o Mutations and Alleles

o Regulation of Gene Expression

o Genetic Symbols

1

4

- Cell division - Mitosis and Meiosis

1

4

Mendel’s law s of Genetics

- Single Factor Crosses

- Dominance, Recessiveness

- Two Factor Crosses and Independent Assortment

1

4

- Probability - branch diagrams

- Chi Squared Analysis

1

4

- Sex Linkage

- Pedigree Analysis

1

4

- Non-disjunction of sex chromosomes

- Sex Determination

1

4

- Multiple Alleles, Incomplete Dominance, Co-dominance, Lethal Alleles

1

4

- Epistasis

- Penetrance and Expressivity

- Linkage

- Tetrad Analysis

1

4

- Mechanism of Recombination

- Mitotic Recombination

- Extranuclear (Maternal) Inheritance

- Maternal Effect

- Imprinting

1

4

- Quantitative Inheritance - (Multigenic Inheritance)

1

4

Classify genetic disorders into cytogenetic, Mendelian and

- multifactorial disorders

- Cytogenetics

- Genetic Mapping in Humans

2

8

Recognize the basis of laboratory tests used in screening and diagnosis of genetic disorders and premarital evaluation (screening).

- - Genetic engineering and gene therapy

- Molecular Techniques

- Genomics

- Genetic Screening

2

8

2. Course components (total contact hours per semester):

Lecture:

30 hours

Tutorial:

Laboratory

30 hours

Practical/Field work/Internship

Other:

30 hours

1. Additional private study/learning hours expected for students per week. (This should be an average :for the semester not a specific requirement in each week)

At least 30 hours needed for research activity using the different web sites related to Genetic Medicine course and the practical lesson

4. Schedule of Assessment Tasks for Students During the Semester

Week Due

Assessment orActivities

5

First midterm exam

1

10

Second midterm exam

2

12

Assay or Written report

3

15

Practical

4

16

Final Examination

5

D- E Learning Resources.

1. Required Text(s)

- Principles of Medical Genetics, 2nd edition. By: Thomas D Gelehrter MD; Francis Collins MD, PhD; David Ginsburg MD, 2007.

- Medical Genetics, Ekram Abdel-Salam,Cairo, 2006.

- Medical Genetics at a glance, by Dorian Pritchard, Bruce R Korf, Blackwell Publishing.

2. Essential References

- Genes and DiseaseBethesda (MD): National Library of Medicine (US), NCBI;

- Diffusion and Use of Genomic Innovations in Health and Medicine: Workshop Summary Hernandez, Lyla M., rapporteur; Roundtable on Translating Genomic-Based Research for Health Washington (DC): The National Academies Press; c2008

- Introduction to Genetic Analysis Griffiths, Anthony J.F.; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M.New York: W. H. Freeman & Co.; c1999

- Human Molecular Genetics 2  Strachan, Tom and Read, Andrew P.New York andLondon: Garland Science; c1999

- Genomes, Brown, T.A.New York andLondon: Garland Science ; c2002

3- Recommended Books and Reference Material (Journals, Reports, etc) (Attach List)

- Modern Genetic Analysis  Griffiths, Anthony J.F.; Gelbart, William M.; Miller, Jeffrey H.; Lewontin, Richard C.New York: W. H. Freeman & Co.; c1999

- Genomes  Brown, T.A.New York andLondon: Garland Science ; c2002

- Molecular Biology of the Cell Alberts, Bruce; Johnson, Alexander; Lewis, Julian; Raff, Martin; Roberts, Keith; Walter, Peter New York and London: Garland Science; c2002

- Introduction to Genetic Analysis  Griffiths, Anthony J.F.; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M.New York: W. H. Freeman & Co.; c1999

4-.Electronic Materials, Web Sites etc

· http://en.wikipedia.org/wiki/Medical_genetics

· http://en.wikipedia.org/wiki/Chromosome

· http://en.wikipedia.org/wiki/Genetic_disorders

5- Other learning material such as computer-based programs/CD, professional standards/regulations

CD, Video, PowerPoint presentation, and photos are available with me

E- Assessment

Grade

Activities

10%

First midterm exam

1

10%

Second midterm exam

2

10%

Assay or Written report

3

20%

Practical

4

50 %

Final Examination

5

100 %

Total






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الساعات المكتبية

الأحـد 10-2 * الأثنين 12-3 * الثلاثاء 11-2

أعلانات : أختبــــارااااااات

First Mid-Term Examination Schedule - Second Semester 1435-1436

Day

Date

Course Name

Code & Number

Wednesday

13 / 5 / 1436

Medical Genetics

MDL 322

Thursday

14 / 5 / 1436

Histology

MDL 211

MDL 242

Monday

18 / 5 / 1436

Hematology

MDL 311

MDL 241

Tuesday

19 / 5 / 1436

Electron Microscope

MDL 314

MDL 362


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Second Mid-Term Examination Schedule Second Semester 1435-1436

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