MOLECULAR BIOLOGY AND GENETICS BMB 526

COURSE TITLE and NUMBER: MOLECULAR BIOLOGY AND GENETICS
BMB 526 (Fall semester, 2011)
FACULTY: Andrea Amalfitano Rebecca Bettin
Office – 4194 Biomedical & Physical Sciences LHCP Suite 6100
145 Michigan Street, GR
Phone - 517-884-5324 616-486-6219
E-mail - amalfit1@msu.edu rebecca.bettin@
SpectrumHealth.Org
FACULTY: Daniela Iacoboni Raquel P. Ritchie
Office - B207 Life Sciences 117 UC-4, MUC
Phone - 517-432-3870 586-263-6296
E-mail - iacoboni@msu.edu rritchie@msu.edu
FACULTY: Jana Simmons Helga Toriello
Office - 617 Secchia Center 363 Secchia Center
Phone - 616-234-2787 616-234-2712
E-mail - simmjana@msu.edu toriello@msu.edu
FACULTY: John Wang Carol Wilkins Stamatina Ziemba
Office - 402C Biochemistry 106A Biochemistry CG-68C, DMC
Phone - 517-353-9542 517-353-4927 313-578-9668
E-mail - wangj@msu.edu mindockc@msu.edu tziemba@msu.edu
.
Section Codes for the Course:
301 for CHM-EL;
302 for CHM-GR;
303 for COM-EL;
304 for COM-DMC;
305 for COM-MUC
Lines of Communication:
(a) Administrative aspects of the Course: contact course coordinator, John L. Wang
(b) Scientific content pertaining to a specific lecture or topic: contact the instructor teaching
that specific portion of the course or your on-site instructor.
(c) Missed exams: CHM-EL students --- Dr. Wanda Lipscomb (517-353-7140)
CHM-GR students --- Dr. Wanda Lipscomb (616-234-2805)
COM-EL students --- Dr. William Falls (517-353-7741)
COM-DMC students --- Dr. Gary Willyerd (313-578-9600)
COM-MUC students --- Dr. Kari Hortos (586-263-6731)
Course Web Site: The URL for the Course web site is http://angel.msu.edu.
You should pay attention to four MAIN sections at this website:
(1) Announcements – Course-related communication to the class will be made here. You should
check for announcements on a daily basis.

(2) Syllabus - Information in this course protocol (textbooks, exam dates, grading system, rules
and regulations, etc.) and information on the instructional team will be provided.
(3) Course Content – Lecture recordings, tutorials (TT), self-study module (SSM), and all other
scientific material will be deposited.
(4) Communicate - You will find a Discussion board on either "interesting" or "frequently
asked" questions.
Although each visit to any section of Angel by an individual student is “tracked” by the computer
and the instructors of the course will have access to such information, we do not intend to use it.
Office Hours: Students are encouraged: (a) to address questions and suggestions to instructors via
the E-mail system; (b) to seek individual consultation with the lecturer or the on-site instructor by
appointment throughout the semester; and (c) to attend help sessions.
Help Sessions: (no new material will be presented; attendance optional; no recording
will be made of these question-and-answer sessions except as noted in (c) below)
(a) In EL, Help Sessions are scheduled for the following dates, times, and venues.
Date Time Instructor Location
Friday, Nov. 4
Monday, Nov. 28
Wednesday, Dec. 14
4 - 6 pm
4:30 - 6:30 pm
1 - 2 pm
Wilkins
Instructional Team
Instructional Team
102 Conrad
102 Conrad
E-202 Fee
(b) Help Sessions corresponding to the above dates and times will be arranged and announced on the
Angel course website for GR, DMC, and MUC. (These non-EL sites do not have to compete with
the rest of the University in terms of classroom/auditorium reservations and can schedule their
sessions most convenient for their lab or small group schedules.)
(c) The Monday, November 28 Help Session will be broadcast ---
4:30-5:30 pm, Dr. Toriello (Secchia Center in GR) to answer questions from all four sites;
5:30-6:30 pm, Dr. Amalfitano (Conrad Hall in EL) to answer questions from all four sites.
Course Objectives: The general objective of this course is to instruct students in the basic
concepts, principles, and language of molecular biology and human genetics and to equip students to
analyze diseases and the responses to diseases in molecular and genetic terms. These principles will
be illustrated using examples from clinical practice. We anticipate that this training will enable
students to recognize and solve genetic problems encountered in subsequent clinical training and
experience. Specific educational objectives for various sections of this course are included in the
body of the coursepack. These objectives represent a subset of the core competencies in genetics
that are expected of all health professionals, as put forth in guidelines from the American Society for
Human Genetics and the National Coalition for Health Professional Education in Genetics.
Prerequisites This course assumes no prior experience or instruction in molecular biology and
genetics beyond elementary college biology. Mastery of concepts introduced in prior first-year
medical school courses (e.g., BMB 514) will be expected.
Course Credit by Waiver Examination: As announced in a memo dated May 16, 2011, this
waiver examination was offered on August 27, 2011. In accord with college policies, students

may take the waiver exam only once. Moreover, students who have taken but not passed the
remediation exam for BMB526 will not be eligible to take a subsequent waiver exam.
Textbooks: Students are expected to acquire and use both a textbook of biochemistry and
molecular biology and a textbook of medical genetics. For molecular biology, the required
textbook will be Lippincott’s Illustrated Reviews: Biochemistry, 5 th edition, by Harvey and Ferrier
(Lippincott Williams & Wilkins, 2011). The Lippincott book, also required for BMB514,
covers the molecular biology content of this course adequately but without much depth. Students
who want more thorough explanations of concepts should consult any of the more substantive
undergraduate biochemistry texts (Lehninger, Stryer, Marks, or Voet & Voet).
The required genetics textbook will be Emery's Elements of Medical Genetics by Turnpenny and
Ellard (Elsevier: Churchill Livingstone, 14th edition, 2012). Some students may opt to consult
other genetics textbooks such as Medical Genetics, 4th edition, by Jorde, Carey, Bamshad and
White (Mosby, Inc., 2010) or Thompson and Thompson Genetics in Medicine (7 th ed.) by
Nussbaum, McInnes and Willard (2007, Saunders).
The coursepack for BMB526 2011 is also required. Given the updates and improvements in this
course each year, coursepacks from previous years will not be suitable.
Other Instructional Material: Additional instructional materials, including tutorial (TT),
assigned readings, problem sets, and computer-based instructional aids, may be provided in the
learning centers of CHM and COM, as links at the course website, or as handouts at lecture
sessions. These materials are intended to be an integral aspect of the course; instruction in some
course objectives may be accomplished entirely through these exercises and experiences, and
thus might not be explicitly addressed during lectures. Students are strongly encouraged and
expected to make use of them.
Opportunities to confirm your understanding: Extensive problem sets with annotated answer
keys are available at the course website. These problem sets are designed both to help the students
grasp key concepts and connections and to provide practice in the skills and tasks defined by the
educational objectives. Some problems may resemble typical exam questions in style and depth;
others will be more open-ended or explorative. These problem sets will not be graded, but will
provide students with an opportunity to assess their mastery of the objectives and to identify
concepts that need further study.
All the exams for this course from 2006-2010 can be found at the website,
http://www.bch.msu.edu/courses/526/bch526XM.htm (Note: This is distinct from the Angel course
website but can be found as a link from the Angel course website.) You can use these old exams to
gauge the level of the questions to be expected in the course.
Evaluation of Student Performance: The educational objectives defined for each section of
this course, as outlined in the coursepack, will serve as the basis for evaluating student
performance. Mastery of these objectives will be expected whether those topics have been
discussed in lecture sessions or explored using other experiences and exercises. The textbooks,
website, on-line learning experiences and other resources should be used in addition to lecture
material for addressing these objectives. Student attainment of these objectives will be evaluated
using two quizzes, two mid-term exams and a comprehensive final exam (see Table below).

(a) Each quiz will contain 6 to 7 questions, to be completed in the first 10 minutes of the (first)
class on the date stated, in the lecture venue.
(b) “Mid-term” exams: Exams I and II will be held 8 – 9:10 am on: (I) Monday, 11/7; and
(II) Wednesday, 11/30. Please note THESE MAY NOT BE AT THE USUAL CLASSROOM
(1) CHM-EL: E100 Veterinary Medical Center (VMC)
(2) CHM-GR: 130 Secchia Center.
(3) COM-EL: 102 Conrad Hall.
(4) COM-DMC: G030, DMC.
(5) COM-MUC: 208 UC-3, MUC.
(c) Final Exam: The final exam will be held 9 – 11 am on Thursday, 12/15. The venues for the
final exam are as listed above. About 38% of the final exam will address objectives introduced
during the final six lecture sessions. The remaining 62% of the exam will review major themes
and integrate concepts used throughout the course. This exam will comprise 57 questions.
(d) The instructors firmly believe that, in addition to serving as an evaluation of student
performance, the quiz and exam questions offer the students another learning experience.
On this basis, all quiz and exam questions are returned to students for their review. In
this spirit, challenges to the officially posted answer keys will be considered up to two
weeks after the date of the quiz/exam.
Exam/Quiz
Q #1
E #I
Q #2
E #II
Final
Date
11/1
11/7
11/15
11/30
12/15
Sessions
1-6
1-11
12-17
12-25
+1 TT
26-32
# of
Sessions
6
11
6
14
7
# of Points
6
34
6
36
58
(22 new/36 review)
% of
Grade
4.3
Excused Absences and Make-Up Exams/Quizzes: Make-up exams/quizzes will be given only to
students with excused absences, obtained from the respective Associate Deans listed on page 1 under
Lines of Communication. Otherwise, there will be no make-up exams offered during the semester.
Make-up exams/quizzes (based on excused absences) should be arranged with the instructor or
course director.
24.3
4.3
25.7
41.4

Grading: A total of 140 points can be derived from the two quizzes, two in-semester exams, and
final exam. Course grades will be assigned on the basis of the overall examination scores,
delineated below.
CHM COM
P ≥ 105 points (75%)
CP 98-104 (70-74%)
P ≥ 98 points (70%)
N < 98 points (70%)
N < 98 points (70%)
Students failing to earn 70% overall will receive an N grade that remains on their college record.
They will be required to remediate in accordance with the policy detailed below.
CHM students that receive the CP grade will also need to remediate by examination in order to
change the CP to a CP/P grade.
Remediation: The remediation policy can be found in the student handbook of the respective
colleges, at the following URLs.
CHM---http://chm.msu.edu/current/documents/2010-2011_Preclinical_Handbook_no_OSAS_9.pdf.
COM --- http://www.com.msu.edu/ss/policies.html
Consistent with the policies, the remediation opportunities for BMB 526 are as follows:
(1) Remediation examination: Saturday, January 7, 2012, 3-5 pm; 60 questions, comprehensive
for the course; passing is 75%. Venues to be arranged and announced at a later date.
(2) Remediation examination: sometime in the week of August 21, 2012, prior to the start of
Fall Semester, 2011 (date, time, venue to be arranged); 60 questions, comprehensive for the
course; passing is 75%.
CHM students earning a CP or N MUST take the remediation examination offered in January,
unless: a) they have more than one remediation exams to take; OR b) they intend to remediate an N
grade by retaking the course. In either case, they must consult with the Block I director.
COM students who receive an N grade MUST take the remediation exam offered in January unless
they have two or more remediation exams to take. In that case, they must consult with Dr. William
Falls, who will advise them regarding the appropriate course of action. COM students attempting a
remediation examination should complete an “Application for Remediation” and enroll for 3 credits
of OST 590. A P or an N grade will be recorded for OST 590, based on performance on the
remediation examination. The “Application for Remediation” can be obtained from the Office of
Student Services: (a) Robin Hastings (C-110 E. Fee) in EL; (b) Cathleen Watson at DMC; and (c)
Jennifer Lanuzza at MUC.
Students failing either remediation exam must retake BMB 526. However, they are NOT eligible for
the waiver exam for BMB 526 when they re-enroll in the course.
Academic Honesty: Michigan State University has established policies on the integrity of
scholarship and grades (All University Policy on Integrity of Scholarship and Grades). The Colleges
of Human and Osteopathic Medicine follow these policies and additional procedures as prescribed in
the respective documents on Medical Students' Rights and Responsibilities. The faculty, in turn, has

the responsibility to insure the integrity of scholarship and grades. In order to facilitate the
performance of this responsibility, several specific announcements at the outset may be useful:
(a) Examination proctors may require students to present pictured identification when exam
papers are collected. Please obtain a pictured identification prior to the first exam and please
bring such identification for each exam.
(b) For each exam, the examination papers will already be distributed (at the seats) prior to
students entering the room. Once you enter the exam room, no books, notebooks, etc., can
be used for studying before beginning the exam (all backpacks, books, etc., should be stowed
as directed by proctors).
(c) Simple, arithmetic calculators will be provided for your use during exam sessions where you
are required to solve numerical problems. No other calculators, computers, cell phones, or
other electronic devices will be allowed at exams and quizzes.
(d) An exam proctor may assign specific seating to students. Students must refrain from
distracting (e.g., toe or pencil tapping, finger drumming, thinking out-loud, etc.) or
suspicious behaviors. Exam proctors have the responsibility to address these behaviors
during examinations (e.g., by asking students to change seats). In order to avoid unnecessary
anxiety/embarrassment for any individual student, a whole row or column of students may be
asked to exchange seats with another row/column.
(e) Late arrivals will not be admitted to the examination more than 20 minutes after the exam
has started. Students who have completed the exam will be allowed to leave the exam room
only after 20 minutes have elapsed
This course will make use of the audience response system (clickers) in certain class discussions. As
is the case with all issues regarding academic integrity and professional behavior, we will follow the
policy stipulated by your college (see CHM/COM student clicker policy): (a) you should register
your clicker and bring it to class; (b) you should not loan your clicker to another student; (c) you
should not be in possession of a clicker other than your own; and (d) you should not answer
questions or check in for attendance on behalf of another student.
Student Feedback on Instruction/Course: The faculty of BMB 526 will be monitoring the
effectiveness of the instruction throughout the semester and will be responsive to constructive
student feedback. Four main mechanisms are available to assess the attainment of instructional
objectives: (a) direct student contact with the instructors; (b) the use of “focus groups” and class
liaisons; and (c) the use of instructor/course evaluations.
Over the long-term, student feedback via “focus groups” and instructor/course evaluations
provides the instructors with invaluable information regarding student perspectives on the
performance of the faculty and the quality of the course. The information gained from these
evaluations will be used to develop future offerings of molecular biology and genetics.

Tuesday Wednesday Thursday Friday
Oct.24 Session 1 Oct.25 2, 3 Oct.26 4 Oct.27 5, 6 Oct. 28
11 am
9, 10 am
9:15 am
9, 10 am
Cell cycle regulation; DNA structure, sequences, DNA recombination, damage, Genetic effects of mutations,
mitosis and meiosis
and the genetic code; and repair
genetic diversity and disease
(Carol Wilkins ) (EL) DNA replication
( Carol Wilkins ) (EL) ( Carol Wilkins ) (EL)
(Carol Wilkins ) (EL)
RNA structure and function
( Jana Simmons ) (GR)
Oct. 31 Nov. 1 7, 8 Nov. 2 9 Nov. 3 10, 11// Nov. 4
10 ,11 am
9 am
10, 11 am
Quiz 1 (in-class)
Protein synthesis and Regulation of gene
RNA synthesis and
processing
expression
processing; Protein synthesis
( Jana Simmons ) (GR)
( Jana Simmons ) (GR) ( Raquel Ritchie ) (MUC)
Nov. 7 EXAM 1 Nov. 8 13 Nov. 9 14, 15 Nov. 10 16 Nov. 11 17
8 am
10 am
10, 11 am
9 am
9 am
Sessions 1-11
PCR, microarrays, and Modes of inheritance; Factors modulating
Mitochondrial disorders
10 am Session 12 gene probing
Factors modulating
inheritance patterns - II (Helga Toriello) (GR)
Recombinant DNA
(Carol Wilkins) (EL) inheritance patterns - I (Helga Toriello) (GR)
(Carol Wilkins) (EL)
(Helga Toriello) (GR)
Nov. 14 18 Nov. 15 19 Nov. 16 20 Nov. 17 21 Nov. 18
9:15 am
10 am
10 am
10 am
Pedigrees and risk analysis Quiz 2 (in-class)
Chromosome abnormalities Common chromosomal
(Helga Toriello) (GR) Introduction to medical (+ TT on cytogenetic) disorders
genetics
(Andrea Amalfitano) (EL)
(Daniela Iacoboni) (EL) (Andrea Amalfitano) (EL)
Nov. 21 22 Nov .22 23 Nov. 23 24, 25// Nov. 24
Nov. 25
10 am
10 am
10, 11 am
Microdeletion disorders Trinucleotide repeat disorders Imprinting and epigenetics THANKSGIVING BREAK THANKSGIVING BREAK
(Andrea Amalfitano) (MUC) (Andrea Amalfitano) (DMC) Complex ("multifactorial")
disorders
(Andrea Amalfitano) (EL)
Nov. 28 26 Nov. 29 Nov. 30 EXAM 1I Dec. 1 28 Dec. 2
10 am
8 am
10 am
Molecular diagnostic
Sessions 12-26
Cancer genetics
applications
10 am Session 27 (Rebecca Bettin) (GR)
(Andrea Amalfitano) (EL)
Population genetics
(Carol Wilkins) (EL)
Dec. 5 29 Dec. 6 30 Dec. 7 31 Dec. 8 32 Dec. 9
8 am
10 am
9 am
10 am
Prenatal screening and Teratogens
Presymptomatic and Future approaches to
diagnosis
(Daniela Iacoboni) (EL) predispositional testing genetic disorders
(Daniela Iacoboni) (EL)
(Daniela Iacoboni) (EL) (Andrea Amalfitano) (EL)
// indicates the last session for which material will be covered in the next exam; Final exam; Thursday, Dec. 15, 9 - 11 am.

BMB 526, Fall, 2011
DATE SES.
TOPIC PROF. ASSIGNED READING
OTHER ACTIVITIES OR
#
Harvey, Ferrier Turnpenny, Ellard ASSIGNMENTS
Oct. 24 1 Cell cycle regulation; Mitosis and Meiosis CW 3-5; 38-42
Oct. 25 2 DNA structure, sequences, and the genetic code CW 395-398; 409-410 13-18; 20-21 Kinemage exercise 1
BioSciExplorer: replication
Oct. 25 3 DNA replication CW 399-409 14-15
Oct. 26 4 DNA recombination, damage and repair CW 410-415 26-28
Oct. 27 5 Genetic effects of mutations; genetics diversity and disease CW 22-26
Oct. 27 6 RNA structure, types, and function JS
Nov. 1 7 RNA synthesis JS Chap. 30: 417-430 BioSciExplorer: transcript.
Nov. 1 8 RNA processing; protein synthesis JS Chap. 31: 431-448
Nov. 2 9 Protein synthesis and post-translational processing JS BioSciExplorer: translat.
Nov. 3 10 Regulation of gene expression -I RR Chap. 32: 449-454 Website problem set 1
Nov. 3 11 Regulation of gene expression -II RR Cahp. 32: 454-463 Kinemage exercise 2
MONDAY, NOVEMBER 7: MIDTERM EXAM 1 (covering sessions 1-11)
Nov. 7 12 Recombinant DNA CW 465-474 53-58
Nov. 8 13 PCR, microarrays, and gene probing CW 479-483 59-60; 67-71
Nov. 9 14 Modes of inheritance HT Chap. 2: 26 In Turnpenny text:
Nov. 9 15 Factors modulating inheritance patterns - I
HT
Chap. 7: 109-121 p. 391, Chap. 7: Quest. 1-5
Nov. 10 16 Factors modulating inheritance patterns - II
HT
Chap. 7: 126-127 p. 393, Chap. 11: Quest. 4
Nov. 11 17 Mitochondrial disorders
HT
Chap. 11: 181-182
Nov. 14 18 Pedigrees and risk analysis HT Chap. 22: 339-347 p. 399, Chap. 22: Quest.1- 5
p. 404, Chap. 22: Case 2
Nov. 15 19 Introduction to medical genetics AA 7 – 11; 249-263
Nov. 16 20 Chromosomal abnormalities
Tutorial on cytogenetics
DI
Chap. 3: 31-51
Nov. 17 21 Common chromosomal disorders
AA
42 – 44; 103-107;
273-278
Nov. 21 22 Macro and micro deletion disorders
AA
280-287
Nov. 22 23 Genetic anticipation: trinucleotide repeat disorders
AA
278-280; 293-296
Nov. 23 24 Imprinting and epigenetics
AA
120 -127
Nov. 23 25 Complex ("multifactorial") disorders
THANKSGIVING BREAK
AA
143-146; 233-246;
346-347
Website problem set 2
Nov. 28 26 Molecular diagnostic applications AA 34 – 37; 60
WEDNESDAY, NOVEMBER 30: MIDTERM EXAM 2 (covering sessions 12-25)
Nov. 30 27 Population genetics
CW
129-136; 139-141
Dec. 1 28 Cancer genetics
RB
211-231
Dec. 5
Dec. 6
Dec. 7
29
30
31
Prenatal screening and diagnosis
Teratogens
Presymptomatic and predispositional genetic testing
DI
DI
DI
Chap. 21: 325-338
Chap. 16: 259-263
Chap. 24: 361-371
Dec. 8 32 Cutting edge and future approaches to genetic disorders AA 173-174; 185-191;
349-359
Website problem set 3
THURSDAY, DECEMBER 15: FINAL EXAM (comprehensive)