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143
CHROMOSOMAL LOCATIONS OF HUMAN GENETIC DISEASES
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145
From Swanson TA, Kim SI, Glucksman MJ. BRS Bio-
chemistry and Molecular Biology. 4th ed. Baltimore: Lippincott
Williams & Wilkins, 2007:341, fig. 21-2.
From Dudek RW. BRS Genetics. 1st ed. Baltimore:
Lippincott Williams & Wilkins, 2010:22, fig. 3-1.
From Dudek RW. BRS Genetics. 1st ed. Baltimore:
Lippincott Williams & Wilkins, 2010:117, fig. 11-6A, B.
From Dudek RW. BRS Genetics. 1st ed. Baltimore:
Lippincott Williams & Wilkins, 117, fig. 11-6C, E.
From Dudek RW. HY Cell and Molecular Biology.
1st ed. Baltimore: Lippincott Williams & Wilkins, 1999:37,
fig. 7-1.
Original source: Redrawn from Alberts B, Bray D, Johnson A,
et al. Essential Cell Biology. New York: Garland Science, 1998:
264.
Dudek RW. HY Cell and Molecular Biology. 1st ed.
Baltimore: Lippincott Williams & Wilkins, 1999:45, fig. 8-3.
Original source: Reproduced with permission from Alberts B,
Bray D, Johnson A, et al. Essential Cell Biology. New York:
Garland Science, 1998:230.
From Dudek RW. HY Cell and Molecular Biology.
1st ed. Baltimore: Lippincott Williams & Wilkins, 1999:38,
fig. 7-2.
Original source: From Alberts B, Bray D, Johnson A, et al. Es-
sential Cell Biology. New York: Garland Science, 1998:268.
From Dudek RW. HY Cell and Molecular Bi-
ology. 1st ed. Baltimore: Lippincott Williams & Wilkins,
1999:39, fig. 7-3.
From Dudek RW. HY Genetics. 1st ed. Lippincott
Williams & Wilkins, 2010:178, fig. 16-3.
From Dudek RW. HY Genetics. 1st ed. Lippincott
Williams & Wilkins, 2010:179, fig. 16-4.
From Dudek RW. HY Genetics. 1st ed., Lippincott
Williams & Wilkins, 2010:180, fig. 16-5.
From Dudek RW. BRS Genetics. 1st ed., Lippincott
Williams & Wilkins, 2010:181, fig. 16-6A, B.
From Dudek RW. BRS Genetics. 1st ed. Lippincott
Williams & Wilkins, 2010:181, fig. 16-6C.
From Dudek RW. BRS Genetics. 1st ed. Lippincott
Williams & Wilkins, 2010:181, fig. 16-6E, F.
From Dudek RW. BRS Genetics. 1st ed. Lippincott
Williams & Wilkins, 2010:181, fig. 16-6D.
Table 10-1:
From Dudek RW. HY Cell and Molecular Biology.
2nd ed. Lippincott Williams & Wilkins, 2007:128.
From Dudek RW. BRS Genetics. 1st ed. Baltimore:
Lippincott Williams & Wilkins, 2010:172, fig. 16-2.
From Dudek RW. HY Cell and Molecular
Biology. 2nd ed. Lippincott Williams & Wilkins, 2007:131,
fig. 16-1.
From Dudek RW: HY Histopathology, 1st ed.
Baltimore: Lippincott Williams and Wilkins, 2008:151,
fig. 12-2.
From Rubin R, Strayer DS. Rubin’s Pathology. 5th
ed. Baltimore: Lippincott Williams & Wilkins; 2008:1139,
figs. 26-54 and 26-55A.
From Brandt WE, Helms CA. Fundamentals
of Diagnostic Radiology. 2nd ed. Baltimore: Lippincott
Williams & Wilkins, 1999:993, fig. 42.24.
From Damjanov I. Histopathology: A Color
Atlas and Textbook. 1st ed. Baltimore: Lippincott Williams &
Wilkins, 1996:176, plate 7.10, fig. 7-31A, B (inset).
From Rubin R, Strayer DS. Rubin’s Pathology. 5th
ed. Baltimore: Lippincott Williams & Wilkins, 2008:1212,
fig. 28-69A.
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146
FIGURE CREDITS
From McMillan JA, DeAngelis CD, Feigin RD,
Warshaw JB. Oski’s Pediatrics: Principles and Practice. 3rd ed.
Baltimore: Lippincott Williams & Wilkins, 1999:2248, left
side of page no figure number.
From McMillan JA, DeAngelis CD, Feigin RD,
Warshaw JB. Oski’s Pediatrics: Principles and Practice. 3rd ed.
Baltimore: Lippincott Williams & Wilkins, 1999:2249, right
side of page no figure number.
From McMillan JA, DeAngelis CD, Feigin RD,
Warshaw JB. Oski’s Pediatrics: Principles and Practice. 3rd ed.
Baltimore: Lippincott Williams & Wilkins, 1999:2254, left
side of page no figure number.
From McMillan JA, DeAngelis CD, Feigin RD,
Warshaw JB. Oski’s Pediatrics: Principles and Practice. 3rd ed.
Baltimore: Lippincott Williams & Wilkins, 1999:2251, left
side of page no figure number.
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147
A
acute promyelocytic leukemia (APL), 53
adeno-associated virus vectors, 135
adenosine deaminase deficiency (ADA), 95,
126f, 128
adenoviruses, 135
agglutination, 92
alignment, 17
all-aneuploidy theory, 72
alternative internal promoters, 45
alternative promoters, 44–5
Alu1 enzyme, 100f, 101
amino acids, 138f
anaphase, 68
aneuploidy, 72
anticodon arm, 37
antigen-presenting cells, 80
antigens, 83
antisense RNA genes, 24, 44
AP1, 40
apoptosis, 71
arms, 7
ataxia-telangiectasia, 14–5
autoimmune disorders, 97–9
organ-specific, 97–9
systemic, 97
B
B lymphocytes, 89–93
early immune response, 81
hemopoietic stem cells, 81
immature B cells, 81
immunoglobulin diversity, 90
immunoglobulin function, 92
immunoglobulin properties, 90–2
immunoglobulin structure, 89–90
later immune response, 81–2
mature B cells, 81
pre-B cells, 81
bacterial artificial chromosomes (BACs), 109
Barr body, 45
base excision repair, 13
basophils, 78
Becker muscular dystrophy (DMD), 51
beta-thalassemia, 38
blood disorders, 97–8
BOR (branchio-oto-renal) syndrome, 131
branchio-oto-renal (BOR) syndrome, 131
BRCA1 hereditary breast cancer, 65
BRCA2 hereditary breast cancer, 65
breast cancer, 65
C
C banding, 6
cAMP response element binding protein, 40, 42
cancer, 71–3
development of, 71–2
progression of, 72–3
accumulation of mutational events, 72–3
chromosome instability, 72–3
DNA repair, 72–3
microsatellite instability, 72–3
signal transduction pathways, 73–6
cancer stem cells, formation of, 72
CAP binding site, 47
caretaker tumor-suppressor genes, 61, 62t
catabolite activator protein (CAP), 46–7
CD8
T lymphocytes, 126f, 127
Cdk-cyclin complexes, 68
cDNA library, 110f, 111
C/EBP protein, 41
cell cycle, 66–9
control of, 68–9
diagram of, 70f
mitosis, 66–8
cell division, 17–9
central nervous system (CNS) disorders, 98–9
centromeres, 4
cerebral gigantism, 129
CHARGE association, 131
checkpoints, 68–9
Chediak-Higashi syndrome (CHS), 96
chemiluminescent substrate, 121
chemokines, 87
chimeric mice, 116f, 117
chromatin fiber, 3
chromosome 18, diagram of, 18f
chromosomes, 5–7
banding, 5–6
compaction, 4
general features, 7
instability, 72–3
meiotic, 5
mitotic, 5
morphology, 7
nomenclature, 7
painting, 6
replication, 9–16
DNA damage, 12–3
DNA repair, 13
DNA replication machinery, 16t
DNA topoisomerases, 11–2
process, 9–11
telomere, 12
staining, 5–6
chronic myeloid leukemia (CML), 53
cis-acting DNA sequences, 39–40
classic gene family, 23
clonal selection theory, 89–99
cloning, 108f, 109–11, 112f
cloning vector, 109
close clustering, 23
Cockayne syndrome, 14
codon, third nucleotide of, 50
colinearity principle, 33
INDEX
Note: Italicized f ’s and t’s refer to figures and tables
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