Genetics

Front Cover
Lippincott Williams & Wilkins, Apr 27, 2009 - Medical - 239 pages

Widely used by medical students studying for the USMLE Step 1, the Board Review Series (BRS) provides basic knowledge as it relates to clinical situations. BRS Genetics addresses a field that is increasingly taught in shorter courses. Chapters are written in an outline format and include pedagogical features such as bolded key words, tables, algorithms, and numerous illustrations, including a 16-page full-color insert. The book contains nearly 300 USMLE-style questions to help test students' memorization and mastery.

A companion Website includes a question bank as well as fully searchable text.

 

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Contents

THE HUMAN NUCLEAR GENOME
1
DNA PACKAGING
12
CHROMOSOME REPLICATION
19
MENDELIAN INHERITANCE
26
UNIPARENTAL DISOMY AND REPEAT MUTATIONS
45
Review Test
51
MULTIFACTORIAL INHERITED DISORDERS
63
POPULATION GENETICS
71
Selected Photomicrographs of Hemoglobinopathies
144
Review Test
145
Answers and Explanations
146
GENETICS OF BLEEDING DISORDERS
147
Hemophilia B Factor IX Deficiency Christmas Disease
148
Summary Table of Laboratory Findings in Bleeding Disorders
149
Summary Table of Bleeding Disorders
150
Review Test
151

The HardyWeinberg Law
73
HardyWeinberg and Autosomal Dominant Inheritance
74
HardyWeinberg and Autosomal Recessive Inheritance
75
HardyWeinberg and Xlinked Dominant Inheritance
76
MutationSelection Equilibrium
77
Linkage
78
Review Test
81
Answers and Explanations
83
MITOSIS MEIOSIS AND GAMETOGENESIS
85
Checkpoints
86
Female Gametogenesis
87
Male Gametogenesis is Classically Divided into 3 Phases
88
Review Test
92
Answers and Explanations
93
CHROMOSOMAL MORPHOLOGY METHODS
94
Chromosome Morphology
96
Review Test
99
Answers and Explanations
100
CYTOGENETIC DISORDERS
101
Structural Chromosomal Abnormalities
103
Summary Table of Cytogenetic Disorders
110
Review Test
118
Answers and Explanations
120
GENETICS OF METABOLISM
123
Metabolic Genetic Disorders Involving Amino Acid Pathways
125
Metabolic Genetic Disorders Involving Lipid Pathways
126
Metabolic Genetic Disorders Involving the Urea Cycle Pathway
128
Degradation Pathways
130
Summary Tables of Metabolic Genetic Disorders
131
Review Test
138
Answers and Explanations
139
GENETICS OF HEMOGLOBINOPATHIES
140
AlphaThalassemia
141
BetaThalassemia
142
Summary Table of Hemoglobinopathies
143
Answers and Explanations
152
GENETICS OF DEVELOPMENT
153
Patterns of Human Birth Defects
154
Determination of the AnteriorPosterior AP Axis
155
Growth and Differentiation
156
Formation of the Extracellular Matrix ECM
159
Neural Crest Cell Migration
160
Summary Table of Developmental Disorders
162
Selected Photographs of Developmental Disorders
165
Review Test
167
Answers and Explanations
168
GENETICS OF CANCER
169
Phases of the Cell Cycle
170
Protooncogenes and Oncogenes
173
TumorSuppressor Genes
174
Loss of Heterozygosity LOH
177
Photographs of Selected Cancers
181
Review Test
183
Answers and Explanations
184
GENETIC SCREENING
185
Preimplantation Genetic Screening PGS
186
Prenatal Genetic Screening
187
Neonatal Genetic Screening
188
Family Genetic Screening
190
Population Genetic Screening
192
Methods Used for Genetic Testing
194
Review Test
195
Answers and Explanations
196
CONSANGUINITY
197
Review Test
199
Answers and Explanations
200
Comprehensive Examination
203
Figure Credits
228
Index
233
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