Файл: Genetics [BRS].pdf

Figure 11-4

From Dudek RW. HY Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins;

2007:159. 

Figure 11-5

From Dudek RW. HY Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins;

2007:161. 

Figure 11-6

From Dudek RW. HY Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins;

2007:162

CHAPTER 12

Figure 12-1 (A1)

From McMillan JA et al. Oski’s Pediatrics, 3rd ed. Baltimore: Lippincott Williams

& Wilkins; 1999:1855. (A2) From Damjanov I. Histopathology: A Color Atlas and Textbook.
Baltimore: Lippincott Williams & Wilkins; 1996:9. (A3) From Damjanov I. Histopathology: A
Color Atlas and Textbook. Baltimore: Lippincott Williams & Wilkins; 1996:9. (B) From
Damjanov I. Histopathology: A Color Atlas and Textbook. Baltimore: Lippincott Williams &
Wilkins; 1996:454. (C) From Shischuk LE. Imaging of the Newborn, Infant, and Young Child,
5th ed. Baltimore: Lippincott Williams & Wilkins; 2004:1097. (D1) Rubin R and Strayer DS et al.
Rubin’s Pathology, 5th ed. Baltimore: Lippincott Williams & Wilkins; 2008:409. (D2) Rubin R
and Strayer DS et al. Rubin’s Pathology, 5th ed. Baltimore: Lippincott Williams & Wilkins;
2008:409. (E) From Rubin R and Strayer DS et al. Rubin’s Pathology, 5th ed. Baltimore:
Lippincott Williams & Wilkins; 2008:654. (F) From Damjanov I. Histopathology: A Color Atlas
and Textbook. Baltimore: Lippincott Williams & Wilkins; 1996:10. (G) From McMillan JA et al.
Oski’s Pediatrics, 3rd ed. Baltimore: Lippincott Williams & Wilkins; 1999:2240. (H) Sternberg
SS et al. Diagnostic Surgical Pathology; volume 1, 3rd ed. Baltimore: Lippincott Williams &
Wilkins; 1999:692. (I) From Damjanov I. Histopathology: A Color Atlas and Textbook.
Baltimore: Lippincott Williams & Wilkins; 1996:8.

CHAPTER 13

Figure 13-1 (A)

From Dudek RW. HY Histopathology, 1st ed. Baltimore: Lippincott Williams &

Wilkins; 2008:138. (B) From Rubin R and Strayer DS. Rubin’s Pathology, 5th ed. Baltimore:
Lippincott Williams & Wilkins; 2008:871.

CHAPTER 15

Figure 15-1 (B, C)

From Dudek RW. HY Genetics, 1st ed. Baltimore: Lippincott Williams & Wilkins;

2008.

Figure 15-2 (A)

From Stevens A and Lowe J. Human Histology, 2nd ed. Baltimore: Mosby;

1997:42. (B) From McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed. Philadelphia: Lippincott
Williams & Wilkins; 1999:2151. (C) From McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed.
Philadelphia: Lippincott Williams & Wilkins; 1999:2143. (D) Dudek R and Fix J. BRS
Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins; 2005:178. Original source:
McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed. Philadelphia: Lippincott Williams &
Wilkins; 1999:396. Courtesy of M.M. Cohen, Jr., Halifax, Nova Scotia, Canada. (E) Dudek R
and Fix J. BRS Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins; 2005:183.
Original source: McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed. Philadelphia:, Lippincott
Williams & Wilkins; 1999:2149. (F) McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed.
Philadelphia: Lippincott Williams & Wilkins; 1999:2239. (G) Dudek R and Fix J. BRS
Embryology, 3rd ed. Baltimore: Lippincott Williams & Wilkins; 2005:183. Original source:
From McKusick VA. Heritable Disorders of Connective Tissue, 4th ed. St. Louis: CV Mosby;
1972:67. (H) McMillan JA et al, eds. Oski’s Pediatrics, 3rd ed. Philadelphia: Lippincott
Williams & Wilkins; 1999:2251. (I) From Swischuk. Imaging of the Newborn, infant, and
young child, 5th ed. Baltimore: Lippincott Williams & Wilkins; 2004:448. (J) Sadler TW.
Langman’s Medical Embryology, 9th ed. Baltimore: Lippincott Williams & Wilkins;
2004:394. Courtesy of Dr. M. Edgerton, University of Virginia, Charlottesville, VA. (K)
McMillan JA et al. Oski’s Pediatrics Principles and Practice, 3rd ed. Baltimore: Lippincott
Williams & Wilkins; 1999:394.

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CHAPTER 16

Figure 16-1 (A)

From Weinberg RA. The Biology of Cancer, 1st ed. Garland Science; 2007:260. (B)

From Weinberg RA. The Biology of Cancer, 1st ed. Garland Science; 2007:260. (C) From
Weinberg RA. The Biology of Cancer, 1st ed. Garland Science; 2007:397. 

Figure 16-2

Modified from Dudek RW. HY Cell and Molecular Biology, 2nd ed. Baltimore:

Lippincott Williams & Wilkins; 2007:126.

Figure 16-3

Modified from Dudek RW. HY Cell and Molecular Biology, 2nd ed. Baltimore:

Lippincott Williams & Wilkins; 2007:118.

Figure 16-4

Modified from Dudek RW. HY Cell and Molecular Biology, 2nd ed. Baltimore:

Lippincott Williams & Wilkins; 2007:121.

Figure 16-5

Modified from Dudek RW. HY Cell and Molecular Biology, 2nd ed. Baltimore:

Lippincott Williams & Wilkins; 2007:122.

Figure 16-6 (A)

Rubin R, Strayer DS et al. Rubin’s Pathology, 5th ed. Baltimore: Lippincott

Williams & Wilkins; 2008:1266. (B) Rubin R, Strayer DS et al. Rubin’s Pathology, 5th ed.
Baltimore: Lippincott Williams & Wilkins; 2008:1266. (C) Spitz JL. Genodermatoses: A Full
Color Clinical Guide to Genetic Skin Disorders. Baltimore: Lippincott Williams & Wilkins;
1996:76. Courtesy of Lawrence Gordon, MD, New York. (D) From Dudek RW and Louis TM.
High Yield Gross Anatomy, 3rd ed. Baltimore: Lippincott Williams & Wilkins; 2008:52. (E)
From Dudek RW. High Yield Histopathology, 1st ed. Baltimore: Lippincott Williams &
Wilkins; 2008:179. Courtesy of Dr. R.W. Dudek. (F) Rubin R, Strayer DS et al. Rubin’s
Pathology, 5th ed. Baltimore; Lippincott Williams & Wilkins; 2008:607.

CHAPTER 18

Figure 18-1

From Dudek RW. HY Genetics, 1st ed. Baltimore: Lippincott Williams & Wilkins;

2008.

Figure Credits

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Aberrations, chromosomal, 169–170
Achondroplasia dwarfism, 26–27, 41, 43, 74, 77,

156, 159, 163, 165, 167–168, 227

Acute myeloid leukemia (AML), 182, 212
Acute promyelocytic leukemia (APL), 106, 112,

116, 182, 212

Adenine, 12, 15, 17–18
Adenomatous polyposis coli, familial, 177, 182,

190–191

Adenosine, 15
Alignment, 87
Allele frequency, 73–77, 79

dominant inheritance, 79

Allele pattern, 80
Alleles

abnormal, 198
dominant, 26–27
globin, 141–143, 146
maternal, 5
mutated, 83, 211, 221, 227
normal, 83, 123, 138–139, 214, 227
possible combinations of, 26–32

Allelic heterogeneity, 40, 61, 206, 208–209, 211,

213, 220–222

Alpha satellite DNA, 10–11, 17–18
AML (see Acute myeloid leukemia)
Amniocentesis, 118, 120, 187–188, 190–193, 195,

205–206, 208–211, 213, 219–220, 222–223

Amniotic fluid, 94, 99, 187, 220
Analysis, chromosomal, 78, 188
Ancestors, common, 197–198
Aneuploidy, 101, 111, 115, 169, 217
Angelman syndrome, 45, 51–52, 104, 115, 118, 120,

221

APL (see Acute promyelocytic leukemia)
Autism, 31, 202–203, 218
Autosomal

disorder, 37
proteins, 4, 33
recessive allele, 28–29
recessive diseases, 45, 81, 83, 210, 214, 216–217,

219, 221, 224–225

recessive disorders, 28–29, 45, 75, 123, 199, 215,

219, 223, 227

recessive mutation, 220

Axis determination, 154–155

Bacteria, 7–8, 100
Bacterial DNA, 7–8
Balanced reciprocal translocation, 98–99, 119, 184,

208–209, 212, 214, 221, 225–226

BCR (see Breakpoint cluster region)
BCR proto-oncogenes, 119, 121
Beckwith-Wiedemann syndrome (BWS), 5–6, 45,

51, 104

Biased disorders/malformations, 64
Bilateral cases, 183
Biological complexity, 1, 9, 11
Birth defects, 65, 70, 165, 197, 199–200, 204, 208,

212, 221

Birthmarks, 40
Bleeding disorders, 149, 151–152

common inherited, 148, 152
episode, 108, 147–148, 150
episode/month, 147–148, 150
episode/year, 147–148, 150
episodes/month, spontaneous, 147–148, 150

Blood transfusions, regular, 142–143
Bloom syndrome (BS), 21, 39, 109–110, 117, 215, 226
BRCA mutations, 202, 217–218
Breakpoint cluster region (BCR), 182, 201, 209, 217
Breast cancer, 27, 66, 175, 177, 181–183, 202, 217
Bruising, 149–150
BS (see Bloom syndrome)
Bumps, minor head, 147–148, 150
BWS (see Beckwith-Wiedemann syndrome)

Cancers

cervical, 66, 69–70, 217
hereditary, 66, 169, 183–184
human, 173–174, 180, 183–184
multiple, 210, 223
ovarian, 110, 113, 177, 201–202, 217

Carcinoma, 67, 182, 184
Cardiomyopathy, hypertrophic, 56–58
Caretaker tumor suppressor genes, 174
Carrier frequency, 33, 73, 81–84, 141, 190–192, 226

expected, 82, 214
high, 141, 190, 193

Carrier protein, 147–148
Carrier rate, high, 129–130
Carrier screening

population-based, 131
population cystic fibrosis, 195

Carrier status, 192, 203, 224
Carriers, female, 9, 31, 82, 119, 128, 203, 210
Cell division, 13, 20, 24, 51, 85–87, 91–93, 122,

169–170, 214, 225–226

Cell line, mosaic, 108, 113
Cell membrane receptors, 156
Cell populations, 102
Cells

cheek, 99–100
female, 4, 33
ganglionic, 161, 164, 166
mesenchymal, 159–161
metaphase, 98
neoplastic, 20, 24
sickle, 75, 144, 211
typical mammalian, 85

Cerebellar ataxia, 56–57, 61, 109, 113
Children

abnormal, 118–119, 121, 201, 221, 223
affected, 27, 30, 38, 64–65, 70, 198, 213, 223
male, 64–65, 212, 214
normal, 26–27, 29, 38, 118, 120, 223

Cholesterol deposits, 127, 133
Chorionic villus sampling (CVS), 187–188,

190–193, 195, 205–206, 208–210, 219–220,
222–223

Index

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Christmas Disease, 148, 151
Chromatin fiber, 13, 17
Chromosomal

breakage, 20, 109
material, 25, 109
morphology methods, 94–95, 97
rearrangement, 97, 190

Chromosome

abnormalities, 119–121, 153, 167, 187, 204,

218–219, 221, 223–224

analysis, 188, 202, 211, 222, 224
breakage, 24–25, 42, 109, 113, 117, 201
deletion, 11, 183
inactivation, 4–5, 17, 30, 32–34, 37, 41
karyotype, 207
locations, 3, 11
number, 90, 93, 121
rearrangements, 25, 183, 215
rearrangements, structural, 120, 217
replication, 6, 19, 21, 23–25
translocations, 170, 183–184, 207

Chromosomes

acrocentric, 97, 101, 225–226
child’s, 120
diploid number of, 85
extra, 101
female, 5
high frequency of structural rearrangements of,

109, 113

individual’s, 223
inverted, 120, 222
long arms of, 184, 208, 226
normal, 120, 173
nuclear, 55
parental, 78, 80
paternal haploid sets of, 11
sex, 1, 92–93, 217
short arm of, 96, 99–100
single, 3, 87, 89, 95

Chronic myeloid leukemia (CML), 108, 112, 116,

119, 121, 173, 182–184, 201, 209, 212, 215,
217, 226

Classic PKU, 125, 133
Classic Rett syndrome (CRS), 31, 76
Cleft lip, 64–65, 101, 111, 115, 162, 164, 167, 205
Cleft palate (CP), 63–65, 68, 70, 105, 111, 118, 127,

133, 153, 162, 164, 166, 187, 204, 210

Clotting activity, 147–148, 150–151
CML (see Chronic myeloid leukemia)
Coefficient of inbreeding (COI), 197–200
Coefficient of relationship (COR), 197–198, 200
COI (see Coefficient of inbreeding)
Colorectal cancers, 39, 69, 110, 113, 176, 184

hereditary non-polyposis, 202

Congenital deafness, 75, 161, 164
Congenital heart defects, 28, 101–102, 104, 111,

188

Congenital hypothyroidism, 188–189, 196
Connexin, 75–76
Consanguinity, 27–28, 37, 65, 73, 187, 197–198, 200
Constitutive heterochromatin, 13, 17, 95
COR (see Coefficient of relationship)
Coronary artery disease, reduced risk of, 127
Cousins, second, 42, 69, 198–199, 209, 222
CP (see Cleft palate)
Crossover point, 78, 80
Crouzon syndrome, 157, 163, 165, 204
CRS (see Classic Rett syndrome)

CVS (see Chorionic villus sampling)
Cysteine, normal, 129, 149, 157
Cystic fibrosis, 29, 37, 40–41, 73, 81, 118, 186, 188,

190–191, 193–196, 201, 203–204, 210–211,
216–219, 224

carrier status, 201–203
mutation, 216, 219, 227

Cytidine, 15
Cytochrome oxidase, 53–54, 56–60
Cytogenetic analysis, 9, 93–94, 99–100, 207, 221
Cytogenetic disorders, 101, 103, 105, 107, 109, 111,

113, 115, 117, 119, 121

Cytogenetic studies, 118, 120, 201, 208, 212
Cytokinesis, 85–86, 89, 92–93, 172
Cytosine, 12, 15, 17–18, 21

Daughter cells, 4, 34, 51–52, 55, 85, 88, 91, 93,

121–122, 169, 214, 224, 226

De novo mutation, 28, 40, 156–157, 160–162,

175–176, 209

Defect

morphological, 153
multiple, 154

Dehydrogenase, succinate, 53, 57–58, 60
Deletion syndrome (DS), 104–105, 111
Deletions

inherited, 120, 183–184
and microdeletions, 111–112
partial, 57, 147–148
small, 29, 31, 33, 125, 189, 192

Dementia, 47–48, 56, 58, 61
Deoxycytidine, 15
Deoxyguanosine, 15
Deoxyuridine, 15
Derivative chromosomes, 98, 106, 201, 212, 217,

226

unbalanced, 225

Diabetes, 47, 57, 63, 65–66, 70, 201, 203, 211,

217–218, 224

Disease

distinct, 221–222
dynamic mutation, 46
frequency, 71, 74–79, 82–84, 221
genetic, 81, 206, 213
multifactorial, 69, 205, 221, 224

Disease gene, 74, 77, 79, 81, 83, 203, 207, 218

achondroplasia dwarfism, 74
sickle cell, 75

Disorder

metabolic, 189, 206–207, 220
mutation, 27
trisomic, 101

Distributions, random, 87, 90
DMD (see Duchenne muscular dystrophy)
DNA, 3, 5–13, 15–23, 25, 61, 71, 77–78, 87, 90, 95,

108–110, 158, 190, 192, 226

analysis, 186–187, 193
analysis of fetal cells, 190–193
chromosomal, 96
damage, 21, 25, 86, 92–93, 171–172
nuclear, 53–54, 60, 62
repair, 7–8, 21, 86, 169, 171
replication, 6, 61–62, 86–88, 90–91, 215
segment, 5–6, 10, 13, 71, 90, 155
sequences, unique, 95
synthesis, 19, 21–22, 85, 214

DNA polymerase, 19–20, 22–23, 53–54, 62

lymphocytes, 23

234

Index

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