Biochemistry & Genetics, 1st Edition

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Contents
Preface . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . vii
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ix
Abbreviations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xi

High-Yield Facts
High-Yield Facts in Biochemistry and Genetics . . . . . . . . . . . . . . . . . 1

STORAGE AND EXPRESSION

OF GENETIC INFORMATION
DNA Structure, Replication, and Repair
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20

Gene Expression
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48

Gene Regulation
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71

ACID-BASE EQUILIBRIA, AMINO ACIDS,

AND PROTEIN STRUCTURE/FUNCTION
Acid-Base Equilibria, Amino Acids,
and Protein Structure
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 101

Protein Structure/Function
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 128

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vi Contents

INTERMEDIARY METABOLISM
Carbohydrate Metabolism
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 154

Bioenergetics and Energy Metabolism

Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 173
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 184

Amino Acid, Lipid, and Nucleotide Metabolism

Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 197
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215

NUTRITION
Vitamins and Minerals
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 245
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 255

Hormones and Integrated Metabolism

Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 269
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 280

INHERITANCE MECHANISMS
AND BIOCHEMICAL GENETICS
Inheritance Mechanisms/Risk Calculations
Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 301
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 325

Genetic and Biochemical Diagnosis

Questions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 347
Answers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 370
Appendix 1. Summary of Questions as Related to Items
in the USMLE Content Outline . . . . . . . . . . . . . . . . . . . . . . . . 395
Appendix 2. Medical Disorders and Processes
Used as Examples . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 401
Bibliography . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 406
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 407
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Preface
This new edition of Biochemistry and Genetics PreTest®: Self-Assessment and
Review is based in part on the earlier biochemistry editions prepared by
Francis J. Chlapowski, Ph.D., Department of Biochemistry and Molecular
Biology, University of Massachusetts Medical School. All questions are now
in single-best-answer format and a large number are analogous to those of
the United States Medical Licensing Examination (USMLE), Part I. Ques-
tions are updated to the most current editions of leading textbooks in med-
ical biochemistry and medical genetics.

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Introduction
Each PreTest® Self-Assessment and Review allows medical students to com-
prehensively and conveniently assess and review their knowledge of a par-
ticular basic science, in this instance biochemistry. The 500 questions
parallel the format and degree of difficulty of the questions found in the
United States Medical Licensing Examination (USMLE), Step 1. Appendix
1 lists the major subject areas of the biochemistry, genetics, and nutrition
portions of the USMLE Step 1 content outline together with questions in
this book that cover those areas. Practicing physicians who want to hone
their skills before USMLE Step 3 or recertification may find this to be a
good beginning in their review process.
Each question is accompanied by an answer, a paragraph explanation,
and a specific page reference to an appropriate textbook. Over 20 reference
figures have been added to help with review, and there are an additional 40
figures geared to specific questions. A bibliography listing sources can be
found following the second appendix of this text, and a list of abbreviations
used in the text follows this introduction. As listed in Appendix 2, over 100
clinical disorders or processes are discussed and related to biochemical
and/or genetic mechanisms. For genetic disorders, a McKusick number is
included that allows the reader to immediately access information about
the disorder using the Online Mendelian Inheritance in Man Internet site
(see the bibliography).
An effective way to use this PreTest® is to allow yourself one minute to
answer each question in a given chapter. As you proceed, indicate your
answer beside each question. By following this suggestion, you approximate
the time limits imposed by the USMLE Step 1 examination. After you finish
going through the questions in the section, spend as much time as you need
verifying your answers and carefully reading the explanations provided. Pay
special attention to the explanations for the questions you answered incor-
rectly—but read every explanation. The authors of this material have
designed the explanations to reinforce and supplement the information
tested by the questions. If you feel you need further information about the
material covered, consult and study the text or online references indicated.
The High-Yield Facts in this book are provided to facilitate rapid
review of biochemistry and genetics. It is anticipated that the reader will
use the High-Yield Facts as a “memory jog” before proceeding through the
questions.

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Abbreviations
ACAT acyl CoA–cholesterol acyl transferase
ACTH adrenocorticotropic hormone
ADP adenosine diphosphate
AMP adenosine monophosphate
ATP adenosine triphosphate
ATPase adenosine triphosphatase
CAP catabolite activator protein
CDP cytidine diphosphate
CMP cytidine monophosphate (cytidylic acid)
CoA coenzyme A
cyclic AMP adenosine 3′,5′-cyclic monophosphate (3′,5′-cyclic
adenylic acid)
DHAP dihydroxyacetone phosphate
DNA deoxyribonucleic acid
DNP 2,4-dinitrophenol
DPG diphosphoglycerate
dTMP deoxythymidine monophosphate
dUMP deoxyuridine monophosphate
EF elongation factor
FAD (FADH) flavin adenine dinucleotide (reduced form)
FMN flavin mononucleotide
FSH follicle-stimulating hormone
GDP guanosine diphosphate
GMP guanosine 5′-monophosphate (guanylic acid)
GTP guanosine triphosphate
hCG human chorionic gonadotropin
HDL high-density lipoprotein
HGPRT hypoxanthine-guanine phosphoribosyltransferase
HMG CoA 3-hydroxy-3-methylglutaryl coenzyme A
hnRNA heterogeneous RNA of the nucleus
IDL intermediate-density lipoprotein
IMP inosine 5′-monophosphate (inosinic acid)
IP3 inositol 1,4,5-triphosphate
LDH lactate dehydrogenase
LDL low-density lipoprotein
LH luteinizing hormone

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xii Abbreviations

mRNA messenger RNA

MSH melanocyte-stimulating hormone
NAD (NADH) nicotinamide adenine dinucleotide (reduced
form)
NADP (NADPH) nicotinamide adenine dinucleotide phosphate
(reduced form)
PGH pituitary growth hormone
Pi inorganic orthophosphate
PPi inorganic pyrophosphate
PRPP 5-phosphoribosylpyrophosphate
RNA ribonucleic acid
RQ respiratory quotient
rRNA ribosomal RNA
TMP thymidine monophosphate
TPP thymidine pyrophosphate
tRNA transfer RNA
TSH thyroid-stimulating hormone
TTP thymidine triphosphate
UDP uridine diphosphate
UMP uridine monophosphate
UTP uridine triphosphate
VLDL very-low-density lipoprotein
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PRE
TEST ®

Biochemistry and Genetics

PreTest® Self-Assessment and Review
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High-Yield Facts in
Biochemistry and
Genetics

HORMONAL CONTROL OF METABOLISM

Metabolism is precisely regulated by hormones controlling the level of
blood fuels and their delivery to tissues. The primary control hormones of
metabolism are insulin and glucagon. Epinephrine has effects similar to
those of glucagon, except that glucagon has a greater effect on the liver
while epinephrine has a greater effect on muscle. Blood levels of glucose,
amino acids, fatty acids, and ketone bodies are maintained by variations in
the [insulin]/[glucagon] ratio. When blood sugar is high, the ratio increases
and insulin signals the fed state, promoting anabolic activities. The ratio
decreases as glucagon is released to direct catabolic activities when blood
glucose falls between meals, during fasting, and during starvation. Epi-
nephrine or norepinephrine is released during exercise to promote catabo-
lism of glucose and fat that supports muscular activity. Under normal
conditions, the very precise interplay between insulin and glucagon main-
tains homeostatic blood fuel levels at about: glucose, 4.5 mM; fatty acids,
0.5 mM; amino acids, 4.5 mM; ketone bodies, 0.02 mM. Blood levels of
ketone bodies and fatty acids rise during fasting or during starvation, with
blood glucose levels being maintained. However, during uncontrolled
juvenile diabetes, blood glucose levels rise greatly. The lack of insulin in
this disease otherwise mimics starvation. The activity of various pathways
during different metabolic states is summarized in the following table.

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2 Biochemistry and Genetics

ACTIVITY OF METABOLIC PATHWAYS

Pathway Fed Fasted Diabetes
Glycogen synthesis + − −
Glycolysis (liver) + − −
Triacylglyceride synthesis + − −
Fatty acid synthesis + − −
Protein synthesis + − −
Cholesterol synthesis + − −
Glycogenolysis − + +
Gluconeogenesis (liver) − + +
Lipolysis − + +
Fatty acid oxidation − + +
Protein breakdown − +/− +/−
Ketogenesis (liver) − + +
Ketone body utilization − + +
(non-hepatic tissues)

KEY FACTS ABOUT INHERITANCE

• Human gametes have 23 chromosomes (haploid chromosome number
n = 23), while most somatic cells have 46 chromosomes (diploid chro-
mosome number 2n = 46).
• Genes occupy sites on chromosomes (loci) and occur in alternative
forms (alleles).
• Mendelian diseases exhibit autosomal dominant, autosomal recessive, or
X-linked inheritance, while multifactorial diseases (e.g., cleft palate, dia-
betes mellitus, schizophrenia, hypertension) are determined by multiple
genes plus the environment.
• Characteristics of autosomal dominant diseases include a vertical pedi-
gree pattern, affliction of both males and females, variable expressivity
(variable severity among affected individuals), frequent new mutations,
and a 50% recurrence risk for offspring of affected individuals (see pedi-
gree A on chart). Corollary: germ-line mosaicism may produce affected
siblings with autosomal dominant disease when neither parent is affected.
• Characteristics of autosomal recessive diseases include a horizontal pedi-
gree pattern, affliction of males and females, frequent consanguinity
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High-Yield Facts 3

(inbreeding), frequent carriers (heterozygotes without manifestations of

disease), and a 25% recurrence risk for carrier parents (see pedigree B on
chart). Corollary: normal siblings of individuals with autosomal recessive
disease have a 2/3 chance of being carriers.
• Characteristics of X-linked recessive diseases include an oblique pedi-
gree pattern, affliction of males only, frequent female carriers, and a 25%
recurrence risk for carrier females (see pedigree C on chart). Corollary:
Haldane’s law predicts a 2/3 chance that the mother of an affected male
with X-linked recessive disease is a carrier (and a 1/3 chance the affected
male represents a new mutation).
• Ethnic correlations with Mendelian disorders include higher frequencies
of cystic fibrosis in whites, sickle cell anemia in blacks, β-thalassemia in
Italians and Greeks, α-thalassemia in Asians, and Tay-Sachs disease in
Jews.
• Advanced maternal age is associated with higher risks for chromosomal
disorders (e.g., Down’s syndrome, trisomy 13), while advanced paternal
age is associated with higher risks for new mutations (e.g., those pro-
ducing achondroplasia or Marfan’s syndrome).
• The Hardy-Weinberg law predicts allele frequencies in an idealized pop-
ulation according to the formula p2 + 2pq + q2 = 1. Applied to cystic fibro-
sis, the law predicts that homozygotes (q2) have a frequency of 1 in 1600,
predicting that carriers (2pq) have a frequency of 1 in 20.
• A karyotype is an ordered arrangement of chromosomes that is described
by cytogenetic notation. A karyotype can be obtained from dividing cells
(blood leukocytes, bone marrow, fibroblasts, amniocytes), but not from
frozen or formalin-fixed cells.
• Cytogenetic notation includes the chromosome number (usually 46),
description of the sex chromosomes (usually XX or XY), and indication
of missing, extra, or rearranged chromosomes. Examples include
47,XY,+21 (male with Down’s syndrome); 47,XX,+13 (female with tri-
somy 13); 45,X (female with monosomy X or Turner’s syndrome);
46,XX,del(5p) (female with deletion of the chromosome 5 short arm).
• DNA diagnosis examines specific regions of genes for altered nucleo-
tide sequences or deletions that affect gene expression and function;
techniques include Southern blotting, gene amplification with the
polymerase chain reaction (PCR), and mutant allele detection by
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4 Biochemistry and Genetics

Pedigree symbols and pedigree patterns.

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High-Yield Facts 5

hybridization with allele-specific oligonucleotides (ASOs). Chromosome

microdeletions encompass several genes and are detected by fluorescent in
situ hybridization (FISH).
• Non-Mendelian inheritance mechanisms include mitochondrial inheri-
tance (exhibiting maternal transmission), expansion of triplet repeats
(exhibiting anticipation in pedigrees as in the fragile X syndrome), and
genomic imprinting (exhibiting different phenotypes according to
maternal or paternal origin of the aberrant genes).
• Prenatal diagnosis can include fetal ultrasound, maternal serum studies,
or sampling of cells from the fetoplacental unit by chorionic villus sam-
pling [CVS at 8 to 10 weeks, amniocentesis at 12 to 18 weeks, or percu-
taneous umbilical sampling (PUBS) from 16 weeks to term].