Course: Genetics

Code: MED 8711

Semester: 2nd
Class Period: MAY-AUG, 2013
Instructor: Dr.Farooq Shiekh
Objective of the Course:
The course mainly emphasize on the role of genes in inheritance,
pathogenesis, diagnosis, counseling, treatment. The principles of genetics
and mechanisms of genetic disorders help the students in applying these
concepts in clinical settings and also in research. Course explains about the
structure of DNA, DNA replication and repair, genetic code , mutations and
translation, genetic regulation, identifying inherited and non-inherited traits,
population genetics, recombinant DNA, techniques of Genetic analysis,
cytogenetics, single gene disorders, gene mapping. Students will be tested
after completion of each topic and are trained for licensure examination.
The student should be able to:
1. describe the various tissues which may be used to produce chromosome
preparations
2. describe the range of balanced and unbalanced rearrangements which
may
occur.
3. explain the effect of unbalanced abnormalities on the phenotype and
the
prognostic implications of these rearrangements.
4. describe the pairing configuration of structurally rearranged
chromosomes
during meiosis.
5. describe the types of segregation possible from such pairing.
6. identify associated risks to carriers of structurally rearranged
chromosomes.

7. Describe the process of fluorescence in situ hybridization.

8. Identify probe types appropriate to specific diagnostic situations.
9. Discuss chromosome abnormalities and their relevance to diagnosis,
Prognosis and disease progression.
10. interpret a karyotype, describe the standard notation, specify the nature
of
Any abnormalities;
11.identify the major clinical features and specific genetic errors responsible
for the following disorders: Angelman syndrome, cri-du-chat syndrome;
Down
syndrome; Klinefelter
syndrome; Prader-Willi syndrome; Turner syndrome; trisomy 13; trisomy
18
IV. SINGLE GENE DEFECTS
The student should be able to:
1.identify the specific genetic errors and the molecular/biochemical
aspects
of
Disease pathogenesis responsible for the following disorders:
Achondroplasia; cystic fibrosis; becker and Duchenne muscular
dystrophy
(BMD/DMD); Marfan syndrome; Neurofibromatosis; Osteogenesis
imperfecta;
phenylketonuria; Tay-Sachs;
2. describe the various types of mutations causing BMD/DMD.
3. discuss methods for detection of mutations and their limitations.
4. discuss diagnosis, carrier detection, genetic screening and treatment of
phenylketonuria and Tay-Sachs;
V. TRIPLET EXPANSION ERRORS
The student should be able to:
1. describe the nature and the effect of triplet expansions
2. discuss the nature of mutations and premutations and how they
contribute to
disease, e.g. understand disease pathogenesis;
3. describe the major clinical phenotypes of the common triplet repeat
Isorders,Myotonic dystrophy, Fragile X, Huntington disease.
4. discuss the underlying mechanism for apparent non-Mendelian
inheritance in
Families segregating for these disorders.
5. list methods of molecular analysis of triplet repeats.
VI. GENETICS OF CANCER

The student should be able to:

1.explain why inheritance of cancer rarely follows simple Mendelian
patterns;
2. outline the genetic changes which occur in the course of
carcinogenesis,
including the roles of oncogenes, tumor suppressor genes, DNA repair
genes and the effect of loss of heterozygosity;
3. Describe the clinical features and identify the specific genetic errors
responsible for the following disorders: familial adenomatous polyposis
cancer, hereditary non-polyposis colon cancer, inherited breast cancer,
retinoblastoma
4. identify those features of a pedigree for cancer which suggest a high
genetic
risk.
5. discuss the extent and limitations of genetic testing in a number of
familial
Cancer syndromes.
VII. LINKAGE:
The student should be able to:
1. describe how linkage between genes or between genes and markers
can be
established in human populations (including use of LOD score);
2. discuss how polymorphisms and gene linkage are used in medicine;
3. discuss risk assessment of X-linked recessive, autosomal recessive and
autosomal dominant disorders using linked markers.
4. discuss the limitations of a marker analysis.
5. describe genetic recombination and discuss its effects on genetic
analysis
and testing.
6. define linkage disequilibrium
VIII. MULTIFACTORIAL DISORDERS
The student should be able to:
1. list the factors which affect the relative recurrence risk for a
multifactorial (polygenic) trait within a family;
2. define the concept of threshold liability and use it to explain why
inheritance patterns in males and females may differ in certain
multifactorial disorders, such as pyloric stenosis; spina bifida.
3. describe the use of twin concordance studies in determining the
genetic
component of multifactorial disorders.
IX. PRENATAL DIAGNOSIS AND SCREENING

The student should be able to:

1. describe how to recognize and classify congenital anomalies and
multiple
Congenital anomaly syndromes;
2. discuss the clinical indications for PND.
3. discuss choice of tissues and advantages and disadvantages for PND
4. discuss the advantages and disadvantages of the following sampling
methods:
i. first trimester screen
ii. chorionic villus sampling
iii. amniocentesis
iv.triple and quad screen
v. ultrasound
vi. PUBS
5. discuss the application of the following techniques to the above
sampling
methods.
I . Cytogenetics
ii. Fish techniques
iii. PCR
6. discuss the use of amniotic fluid AFP and AChE in the prenatal diagnosis
of
NTD.
7. discuss the use of maternal serum AFP in population screening for NTD.
8. describe the role of ultrasound in prenatal diagnosis and screening of
NTD.
X. GENETIC COUNSELING AND ETHICS
The student should be able to:
1. discuss the purpose of genetic counseling;
2. identify the issues that need to be considered during genetic
counseling.
3. discuss ethical dilemmas and emotional issues in genetic disorders
Course Format:
The course materials in the form of lecture/ discussion shall be presented
and tested in a traditional format using LCD projectors and PowerPoint
presentations.
Grades:

A minimum of 70% is a passing grade, whilst less than 70% shall be

considered as a failing grade.
The grade scale is listed below:
96 100% = H
90 95% = A
80 89% = B
70 79% = C
<70% = F
Course Evaluation:
* Schedule of Examinations:
- First exam

20%

- SECOND exam

20%

- Third Exam

- Final Exam

20%
=

- Quizzes & Clinical Case Presentations =

TOTAL

30%
10%
100%

* In accordance to USMLE, all exam formats shall be multiple-choice

questions.

cumulative

multiple-choice

written

examination

(50

questions) and practical examination IF REQUIRED will be given at the

scheduled periods. The examination shall not be constructed to assess
everything you know or should know, but rather, it shall attempt to target
the essentials.
* Grades for each examination shall be made available to the students as
soon as possible.
* Missed examinations and make-up examinations - a failing grade
shall be assigned to each missed examination. Make-up examination shall
be provided on an individual basis, and only under exceptional
circumstances as approved by the Dean.

* Students will not be allowed to take the examinations earlier or

later than scheduled dates unless approved by the Dean of
Academics
Class Attendance:
University policy requires that students attend at least 80% of classes.
See the Student Handbook for specifics.
Withdrawing from a Course:
Students may request to withdraw from a course. See the Student
Handbook for specifics.
Student Misconduct:
See the Student Handbook for specifics. Its policies shall be strictly
enforced.
Text Book:
REQUIRED:
Thompson & Thompson Genetics in Medicine: With STUDENT
CONSULT Online Access, 7e [Paperback] by Robert Nussbaum MD (Author),
Roderick R. McInnes MD PhD FRS(C) (Author), Huntington F. Willard PhD
(Author), Publication Date: June 22, 2007 | ISBN-10: 1416030808 | ISBN-13:
978-1416030805 | Edition: 7
REFERENCES:
Principles of Medical Genetics by Thomas D.,M.D. Gelehter, Francis
S. Collins, David Ginsburg- Published by Lippincott Williams and
Wilkins Edition 3rd ISBN: 0781729793
Emery's Elements of Medical Genetics: With Student CONSULT
Online Access
Published by Churchill Livingstone- 13th edition- ISBN: 0702029173
Lecture Schedule Genetics

MAY-AUG, 2013

WEEK # 1
ORIENTATION
DAY

MONDAY
Introduction and history of
genetics
mutation, genetic variation ,
Polymorphism
WEEK # 2
Quiz + the human gene map and
linkage analysis
WEEK # 3
Quiz + Population genetics
WEEK # 4

EXAM 1

Quiz + Clinical cytogenetics

WEEK # 5
Review of the first exam +
Hemoglobinopathy
WEEK # 6
Quiz + Hemoglobinopathy +
Pharmacogenetics
WEEK # 7
Biochemical Genetics
WEEK # 8

EXAM 2

Genetics of Immune system

WEEK # 9
Review of the midterm exam +
Genetics and Cancer
WEEK # 10
Quiz + Clinical Genetics : Genetics
counseling + Calculation of generic
risk/ Bayes theorem
WEEK # 11

The student presentations + review

WEEK # 12

EXAM 3

Genetic diagnosis and treatment

WEEK # 13
Regulation of Gene
Expression I
Regulation of Gene Expression II
WEEK # 14
Gene mapping I
Gene mapping II
Review & Seminars
WEEK # 15
CLASSES END & FINAL EXAM