Medical Genetics I

Code:

MD2303

Acronym:

GM I

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2011/2012 - 1S

Active?	Yes
Web Page:	http://genetica-fmdup.pt.vu/
Responsible unit:	Mestrado Integrado
Course/CS Responsible:	Integrated Master in Dental Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMD	90	PLANO OFICIAL 2007/2008 BOLONHA	2	-	3	45	81

Teaching language

Portuguese

Objectives

Providing knowledge and skills on the principles of genetics and applications of Genetics in Medicine and Dental Medicine.

Program

1.Human Genetics history. Importance of Medical Genetics and genetic diseases in Medicine. Reasons for the increase in their relative incidence. Brief description of the areas of genetics. Reasons for the increase of the disease. Gene regulation of development, metabolism and homeostasis.
2.Origin and species evolution. Molecular evolution. Eugenia. Variation spunk. Individual susceptibilities and their growing importance.
3. The substrate of genetic information. Chromosomal Organization of the genome.Gene concept. DNA structure. Divisions of Medical Genetics: Molecular Genetics, Cytogenetics, Clinical Genetics and Population Genetics. Applications of Genetics.
4. DNA analysis. DNA to the protein. Gene expression.
5. Mutation. Etiology and types. Importance of the mutation. Repair mechanisms.
6. Monogenic, chromosomal, multifactorial, somatic and mitochondrial genetic pathology. Frequency of genetic disease. Determining the nature of a hereditary disease. Mendelian and no mendelean heredity. Concepts of dominant and recessive. Morton's postulates.
7. Hereditary and maternal mitochondrial genes. Behavior genetics.
8. Extensions and exceptions to Mendel's laws. Sex-linked transmission. Multifactorial heredity.
9. Visualization of chromosomes. Pathology of cell division and meiotic configurations. Cytogenetic techniques.
10. Chromosomal pathology. Chromosomal abnormalities of number and structure. Autossomopatias. Heterossomal pathology. Uniparental disomy. Repeated miscarriages. Most common chromosomal abnormalities in the newborn.
11. Genetic determination of sex. Intersex. Sexual differentiation.
12. Genetics of population. The maintenance of gene frequencies. Allele frequencies constant.
13. Genetics of population Applications of the Hardy-Weinberg law. Changing allele frequencies. Effects of the mutation rate, selection, migration and population size. Genetic polymorphisms, imbalance.
14.Genetic test for medicine and dental medicine.

Mandatory literature

Lewis Ricki; Human genetics
Hartl DL, Jones ew; Analysis of Genes and Genomes., Jones and Bartlett Publishers., 2005
Peter Turnpenny, Sian Ellard; Emery's Elements of Medical Genetics, Elsevier, 2007
Jorde, Carey, Bamshad, White; Medical Genetics, Mosby, 2006
Thompson & Thompson; Genetics in Medicine, Saunders, 2001

Teaching methods and learning activities

Learning

- Theoretical learning - 1 weekly theoretical classe.

- Compulsory theoretical-practical learning - 1 weekly theoretical-practical class, 1 hour and a half each.

keywords

General programmes > Basic programmes > Basic programmes
General programmes > Basic programmes
Social Sciences, Commerce and Law > Basic programmes
General programmes > Basic programmes
Health sciences

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	40,00
	Total:	-	0,00

Eligibility for exams

Force the rules for obtaining frequency FMDUP.

Calculation formula of final grade

EVALUATION

Theoretical (compulsory) and theoretical-practical evaluation (compulsory).

Theoretical evaluation (T)
Made through a multiple-choice examination with five or more sub-headings.
Students should note all the points with T or F. However should also know that each wrong choice lessens 1/2 of the value of the correct sub-heading.
This examination will be scored in a scale of 0 to 20.

Theoretical-practical evaluation (TP)
Given by the teacher in charge according to the work done by the student. Marks go from 0 to 20,
values distributed on 3 parameters: theoretical - practical work, participation and behavior, resolution of problems / issues on matters of theoretical-practical classes.

FINAL NOTE
The note is obtained using the following formula
Final note = (theoretical evaluation x 0.45) + average (theoretical - practical work continuous assessment +) x 0.45 + (attendance x 0.1).

The approval of the curricular unit is only accomplished with a minimum score of 9 values ​​in evaluating T and a minimum score of 9 TP values ​​in the evaluation.

Admission to the final exam or the appeal is only possible after the completion of a theoretical -practice component.

RE-EVALUATION OF EXAMS AND POSSIBLE CONTESTATION OF MARKS

Students who want to contest the final mark, can do it on a set time indicated by the teachers in charge.

Examinations or Special Assignments

Work are not covered nor is special. Obtaining approval to the curricular unit is governed by the same criteria for all students except those enrolled in the special We contemplate the FMDUP.

Special assessment (TE, DA, ...)

The students of working student, professional athlete or leader associations, can be assessed by exam, outside the normal assessment in accordance with the law in effect FMDUP.

Classification improvement

To obtain grade improvement is mandatory to perform a scan with the theoretical and theoretical-practical discipline, keeping the same evaluation criteria applied to the exam.

Observations

Regent:
Paula Vaz - Auxilar Professor of Medical and Orofacial Genetics of FMDUP.