End of Chapter Terms Flashcards
(173 cards)
1
Q
Any of the alternative forms of a given gene
A
allele
2
Q
Prenatal test in which a small sample of amniotic fluid is removed for testing
A
amniocentesis
3
Q
A condition in which extra or fewer copies of particular genes or chromosomal regions are present compared with the wild type
A
aneuploidy
4
Q
a pattern of inheritance in which an affected individual has one copy of the mutant gene and on of the normal on a pair of autosomal chromosomes. 50:50 chance of passing the mutant gene to each of their children
A
Autosomal dominant
5
Q
All chromosomes other than the sex chromosomes
A
autosomes
6
Q
a prenatal test that involves taking tiny tissue sample from outside the sac where fetus develops. btw 10-12 weeks
A
Chorionic villus sampling (CVS)
7
Q
alteration in the number or physical structure of chromosomes
A
chromosomal aberration
8
Q
DNA molecule that contains genes in linear order to which numerous proteins are bound
A
chromosome
9
Q
a sequence of three adjacent nucleotides in an mRNA molecule, specifying either an amino acid or a stop signal in protein synthesis
A
Codon
10
Q
Degree of relationship between persons who descend from a common ancestor
A
consanguinity
11
Q
a feature of the genetic code in which an amino acid corresponds to more than one codon
A
Degenerate
12
Q
loss of chromosomal material
A
Deletion
13
Q
a macromolecule usually composed of two polynucleotide chains in a double helix that is the carrier of genetic material
A
DNA
14
Q
refers to an allele whose presence in a heterzygous genotype results in a phenotype characteristic of the allele
A
Dominant
15
Q
a chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21
A
Down syndrome
16
Q
a region of DNA containing genetic information, which is usually transcribed into an RNA molecule that is processed and either functions directly or is translated into a polypeptide chain
A
gene
17
Q
systematic study of an organism’s genome using large-scale DNA sequencing, gene-expression analysis
A
genomics
18
Q
a mutation that takes place in a reproductive cell
A
Germinal mutations
19
Q
an individual who has only one member of a chromosome pair or chromosome segment rather than the usual two; x linked genes in males who under normal situations only have one X
A
Hemizygous
20
Q
Carrying dissimilar alleles of one or more genes
A
heterozygous
21
Q
having the same allele of a gene in homologous chromosomes
A
homozygous
22
Q
a genetically determined biochemical disorder usually in the form of an enzyme defect that produces a metabolic block
A
inborn errors of metabolism
23
Q
a structural aberration in a chromosome in which the order of several genes is reversed from the normal order
A
inversion
24
Q
a disorder that occurs when an ovum with an extra x chromosome is fertilized by a sperm with a Y chromosome. XXY in males = sterile
A
Klinefelter syndrome
25
the site or position of a particular gene on a chromosome
locus
26
the mechanism of inheritance in which the statistical relations btw the distribution of traits in successive generations result from three factors
mendelian genetics
27
an RNA molecule that is transcribed from a DNA sequence and translated into amino acid sequence of a polypeptide
Messenger ribonucleic acid mRNA
28
a small circular chromosome found in each mitochondria that encodes tRNA rRNA and proteins involved in oxidative phosphorylation and ATP generation
Mitochondrial chromosome
29
controlled by a single gene
monogenic
30
a condition in an otherwise diploid organism in which one member of a pair of chromosomes is missing
Monosomy
31
heritable alterations in a gene or chromosome
mutation
32
failure of chromosomes to separate and move to opposite poles of the division spindle loss or gain or chromosome
nondisjunction
33
a diagram representing the familial relationship among relatives
pedigree analysis
34
genetic disorder resulting from the combined action of alleles of more than one gene
polygenic
35
refers to an allele or the corresponding phenotypic trait, that is expressed only in homozygoutes
recessive
36
a type of RNA molecule that is a component of the ribosomal subunits
rRNA
37
a chromosome that plays a role in the determination of sex x y
sex chromosomes
38
a mutation arising in a somatic cell
somatic mutation
39
DNA - ssRNA
transcription
40
translates a codon into an amino acid
tRNA
41
mRNA -> protein
translation
42
a mutation results from an exchange of parts of two chromosomes
translocation
43
disorder in which a normally diploid organism has an extra copy of one of the chromosomes
trisomy
44
protein that does not achieve its full length or its proper form, cannot perform its function
truncated protein
45
monosomy syndrome that results when an ovum is lacking the X chromosome is fertilized by a sperm that contains a X. or when normal ovum X is fertilized with sperm lacking X or Y. XO
Turner Syndrome
46
a mutation in this gene disrupts chloride and water transport across membranes and ends up producing thick mucus that obstructs airways in the lungs and pancreatic ducts
CFTR gene
47
differentially labeled, chromosome-specific DNA strands for hybridization with chromosomes to label each chromosome with a different color.
chromosome painting
48
mating between related individuals
consanguineous
49
autosomal recessive trait/congenital metabolic disorder in which secretions of exocrine glands are abnormal. Excessively viscid mucus causes obstruction of passageways (pancreatic, bile, intestines, and bronchi) and the Na and Cl content of sweat are increased in pt's life
Cystic Fibrosis
50
a genetically determined biochemical disorder, usually in the form of an enzyme defect that produces a metabolic block
inborn error of metabolism
51
the chromosome complement of a cell or organism; often represented by an arrangement of metaphase chromosomes according to lengths and the positions of their centromeres
karyotype
52
the proportion of organisms having a particular genotype that actually express the corresponding phenotype.
Penetrance
53
the enzymes that converts phenylalanine to tyrosine and that is defective in phenylketonuria
Phenylalanine hydroxylase (PAH)
54
a hereditary human condition resulting from inability to convert phenylalanine to tyrosine; causes severe mental retardation unless treated in infancy and childhood by a low-phenylalanine diet
Phenylketonuria (PKU)
55
repeated cycles of DNA denaturation, renaturation with primer oligonucleotide sequences, and replication, resulting in exponential growth in the # of copies of the DNA sequence located b/w the primers
Polymerase chain reaction (PCR)
56
a labeled DNA or RNA molecule used in DNA-RNA or DNA-DNA hybridization assays
Probe
57
a brother or sister, having the same parents
sibling
58
a membrane that forms a fluid-filled sac around embryo
amnion
59
an early stage of embryo development, which can be recognized through the presence of an inner cell mass
blastocyst
60
the outer layer of cells in the embryo, after establishment of the 3 primary germ layers; the germ layer that comes in contact with the amniotic cavity
Ectoderm
61
the developing human within the first 2 months after conception
embryo
62
the innermost of the 3 primary germ layers of embryo; the epithelial lining of the primitive gut tract and the epithelial component of the glands and other strictures that develop as outgrowths from the gut tube are derived from the endoderm
Endoderm
63
the development of relatively MILD degrees of mental deficiency and emotional disorders in children whose mothers use alcohol during their pregnancy
fetal alcohol effect
64
a condition marked by an excessive accumulation of CSF, resulting in dilation of the cerebral ventricles and raised ICP; may result in enlargement of the cranium and atrophy of brain
Hydrocephalus
65
the cells at the embryonic pole of the blastocyst, which are concerned with formation the body of the embryo
inner cell mass (ICM)
66
the middler of the 3 germ layers of the embryo the origin of connective tissues, myoblasts, blood, the CV and lymphatic systems, most of urogenital system, and the lining of pericardial, pleural, and peritoneal cavities.
Mesoderm
67
abnormal smallness of the head; a term applied to a skull with a capacity of less than 1350mL; associated with mental retardation
microcephaly
68
a form of emergency birth control used to prevent a woman from getting pregnant after she has engaged in unprotected vaginal intercourse
morning after pill
69
the earliest stage of embryo after cell division, consisting of a ball of identical cells
Morula
70
the formation of organs during development
organogenesis
71
a group of chemical messengers that communicate with neighboring cells by simple diffusion
paracrines
72
the process of birth
parturition
73
defective development of arms or legs or both, so that the hands and feet are attached close to the body, resembling the flippers of a seal
phocomelia
74
a structure consisting of maternal and fetal tissues that allows for exchange of gases nutrients and wastes b/w the mother's circulatory system and the fetus's
placenta
75
the occurrence of cavities in the brain substance, communicating usually with the lateral ventricles
porencephaly
76
the cell layer covering the blastocyst that erodes the uterine mucosa and through which the embryo receives nourishment from the mother. Cells contribute to the formation of the placenta
trophoblast
77
a sac of extra embryonic membrane that is located ventral to the embryonic disk and after formation of the gut tube, is connected to the midgut;
yolk sac
78
fertilized ovum before cleavage begins
Zygote
79
Any one of a series of one, two, or more alternative forms of a gene that may occupy the same locus on a specific chromosome
allele
80
from the greek word for dance; the incessant, quick, jerky, involuntary movements that are characteristic for Huntington's disease
Chorea
81
difficult in performing voluntary movement
Dyskinesia
82
the product of the Huntington's disease gene on chromosome 4
Huntingtin
83
any substance that can be elevated in inflammatory processes
acute-phase reactant
84
a protein product normally produced only in the fetal liver and used as a tumor marker in adults
Alpha-fetoprotein (AFP)
85
a total bone marrow failure characterized by a decrease in all blood cells
aplastic anemia
86
a disease of the myocardium that has variable etiologies and clinical presentation
cardiomyopathy
87
a term used to describe heterozygotes in recessive disorders who do not express disease characteristics themselves but can pass the mutation on to their offspring
Carrier
88
A degenerative disease of the liver characterized by formation of fibrous tissue and scarring, resulting in the inhibition of normal cellular function
Cirrhosis
89
an imaging study of the liver used to detect the presence of tissue changes such as tumors, abscesses, and cysts
hepatic ultrasound
90
inflammation of the liver causing impaired function as a result of toxins, autoimmune disorders, or infectious agents
Hepatitis
91
the most common type of non-metastatic liver cancer; also known as primary hepatocellular carcinoma
Hepatoma
92
enlargement of the liver
Hepatomegaly
93
an autosomal recessive disorder caused by a single mutation in the HFE gene, which causes increased intestinal absorption of iron and results in increased iron storage in body tissues
Hereditary hemochromatosis
94
the underproduction of a single type of blood cell produced in the bone marrow
Myelodysplastic syndrome
95
the portion of individuals carrying a particular mutation who express an associated, observable trait
Penetrance
96
the alteration of a single nucleotide to a different nucleotide
point mutation
97
repeated cycles of DNA denaturation, renaturation with primer oglionucleotide sequences, and replication, resulting in exponential growth in the number of copies of the DNA sequence located between the primers
PCR
98
A measure of the amount of iron bound to transferrin
serum ferritin levels
99
a measure of the amount of unbound iron that has been transported to the blood
serum iron levels
100
a phenotype expressed in both male and females but with different frequencies in the two sexes
Sex-influenced phenotype
101
toxic effects that work together such that the total toxic effect is greater than the sum of the two (or more) single effect
Synergistic hepatotoxic effects
102
removal of a portion of the blood volume to alleviate symptoms
therapeutic phlembotomy
103
a measure of all proteins available to bind iron and an indirect measure of transferrin levels
total iron-binding capacity (TIBC)
104
the globulin protein that transports iron to the bone marrow
transferrin
105
the portion of transferrin bound to iron. this value is found by dividing the serum iron by the total iron binding capacity
transferrin saturation levels
106
variation in disease symptoms among persons with the same mutation
Variable expressivity
107
the absence of spermatozoa in semen
azoospermia
108
cirrhosis due to biliary obstruction, which may be a primary intrahepatic disease or occur secondary to obstruction of extrahepatic bile ducts
biliary cirrhosis
109
failure of the right ventricle of the heart, secondary to enlargement and increased pressure caused by disease of the lungs or pulmonary blood vessels
cor pulmonale
110
insulin deficiency and insulin resistance caused by complications from cystic fibrosis
cystic fibrosis-related diabetes mellitus
111
obstruction of the intestines due to retention of a dark green wast product (meconium) that is normally passed shortly after a childs birth
meconium ileus
112
elevation of pressure in the hepatic portal circulation due to cirrhosis or other fibrotic change in liver tissue. When pressure exceeds 10 mm Hg, a collateral circulation may develop to maintain venous return from structures drained by the portal vein, engorgement of collateral veins can lead to esophageal varices and, less often, caput medusae
portal hypertension
113
excretion of excess fat in the feces
steatorrhea
114
an enlarged and tortuous vein, artery, or lymphatic vessel
varices
115
the predictability of progressively earlier onset and increased severity of certain diseases in successive generations of affected persons
anticipation
116
a pouch or sac opening from a tubular or saccular organ such as the intestines or bladder
diverticula
117
inflammation of a diverticulum, small pocket in wall of colon, filled with stagnant fecal matter
diverticulitis
118
the complete or almost complete failure of the kidneys to function, can no longer remove wastes, concentrate urine, and regulate electrolytes
end stage renal disease ESRD
119
the character of a phenotype produced by mutation at more than one gene or by more than one genetic mechanism
genetic heterogeneity
120
relating to an agent that damages the liver
hepatotoxic
121
relating to an agent that damages renal cells
nephrotoxic
122
a type of kidney cancer in which the cancerous cells are found in the lining of very small tubes in the kidney
renal cell carcinoma
123
a condition in which the number of repeating triplet units in a gene is so great that it interferes with gene expression and causes more severe disease
triplet repeat expansion
124
a flat spot on the skin that is the color of coffee in persons with light skin. may be a sign of neurofibromatosis, 6 or more = diagnosis
cafe au lait spot
125
axillary and inguinal freckling often associated with type 1 neurofibromatosis
crowe sign
126
any neoplasm derived from one of the various types of cells that form the interstitial tissue of the brain, spinal cord, pineal gland, posterior pituitary gland, and retina
glioma
127
a focal malformation that resembles a neoplasm, grossly and even microscopically, but results from faulty development in an organ
hamartoma
128
growth of hair in excess of normal
hypertrichosis
129
iris hemartomas, typically seen in type 1 neurofibromatosis
lisch nodule
130
a tumor suppressor gene encoded on chromsome 22 - mutation disrupts tumor suppressor activity and leads to the formation of schwannomas associated with type 2 neurofibromatosis
merlin
131
a benign encapsulated tumor resulting from proliferation of schwann cells that are of ectodermal origin and that form a continuous envelope around each nerve fiber of peripheral nerves
neurofibroma
132
a tumor suppressor gene encoded on chromosome 17 - loss due to mutation in this gene leads to the formation of neurofibromas in type 1
neurofibromin
133
A benign encapsulated neoplasm in which the fundamental components is structurally identical to a syncytium of schwann cells. originate particularly in eighth cranial nerve
schwannoma
134
a gene that encodes a protein involved in controlling cellular growth; inactivation leads to deregulated cellular proliferation -> cancer
tumor suppressor gene
135
any condition in which the number of red blood cells is less than normal per 100mL
anemia
136
a situation which frequency of mutated alleles is higher among certain ethnic groups than in others
ethnic variation of allelic frequency
137
a type of hemoglobin related disease characterized by episodes of abdominal and joint pain, an enlarged spleen, and mild jaundice, but no severe crises. mostly in african americans
hemoglobin c disease
138
a type of hemoglobin related disease that occurs in people who have one copy of the gene for sickle cell disease and one copy of the gene for hemoglobin c disease
hemoglobin sc disease
139
a mutated allele at the same locus as a normal allele that confers the advantage of protection against a disease and increases survival
heterozygote advantage
140
a mutation that confers a new property on the protein product
novel property mutation
141
an alteration of a single nucleotide to a different nucleotide
point mutation
142
the heterozygous state of the gene for hemoglobin s in sickle cell anemia
sickle cell trait
143
an erythrocyte with a dark center surrounded by a light band that is encircled by a darker ring; shooting target
target cell
144
an abnormal dilation of the aorta at the level of ascending aorta or the sinuses of valsalva
aortic aneurysm
145
a longitudinal tear btw the layers of the aorta that may progress due to the high-pressure flow inside the aorta
aortic dissection
146
an ocular abnormality found in persons with familial thoracic aortic aneurysms and dissections that is highly associated with ACTA2 mutations
Iris flocculi
147
a purplish skin discoloration in a lacy pattern caused by constriction of deep dermal capillaries
livedo reticularis
148
a connective tissue, multisystemic disorder characterized by skeletal changes, cardio defects, and ectopia lentis. It is passed on through autosomal dominant inheritance of a mutation in the fibrillin-1 gene on chromsome 15
Marfan syndrome
149
widening or bulging of the upper portion of the aorta that may occur in the descending thoracic aorta, the ascending aorta, or the aortic arch
thoracic aortic aneurysm
150
variation in disease symptoms among persons with the same mutation
variable expressivity
151
any condition in which the heart muscle is dysfunctional
cardiomyopathy
152
an inherited lipid storage disease that results from a deficiency in the enzyme alpha-galactosidase found on the x chromosome. This defect leads to the accumulation of glycospingolipids in the plasma and lysosomes of vascular endothelial and smooth muscle cells
Fabry disease
153
enlargement of the muscle tissue in the wall of the left ventricle, often involving the intra-ventricular septum
left ventricular hypertrophy LVH
154
the heart muscle cells responsible for contractility of the heart
myocardium
155
the simplest unit of muscle tissue that allows the muscle to contract
sacromere
156
an electrocardiographic pattern sometimes associated with paroxysmal tachycardia; it consists of a short PR interval together with a prolonged QRS complex with a slurred initial component
Wolff-Parkinson-White syndrome
157
a mutated allele that disrupts the function of a normal allele in the same cell
dominant negative mutation
158
the production of the same or similar phenotypes by different genetic mechanisms
genetic heterogeneity
159
a genotype that determines a phenotype which closely resembles the phenotype determined by a different genotype
genocopy
160
structural molecules found in load-bearing tissues
microfibrils
161
variation in disease symptoms among persons with the same mutation
variable expressivity
162
an alteration in the normal sequence of a gene
allele variant
163
chest pain that is precipitated by exertion and relieved by rest; caused by inadequate oxygen delivery to heart muscles
angina
164
a corneal disease caused by deposits of phospholipids and cholesterol in the corneal stroma and anterior sclera surrounding the iris of the eye
arcus corneus
165
thickening and loss of elasticity of arterial walls, caused by lipid deposits and thickening of the intimal cell layers within arteries
atherosclerosis
166
the principal sterol found in all higher animals. It is distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils
cholesterol
167
accumulation of random genetic changes in an isolated population as a result of its proliferation from only a few parent colonizers.
founder effect
168
a genetic change that increases the activity of a gene protein or increases the production of the protein
Gain-of-function mutation
169
a genetic change that reduces the activity of a gene protein or decreases the production of the protein
loss-of-function mutation
170
low density lipoprotein
the type of lipoprotein responsible for transport of cholesterol to extrahepatic tissues
171
death of the heart muscle, caused by occlusion of the coronary vessels
myocardial infarction
172
a cutaneous manifestation of lipid accumulation in the large foam cells that presents clinically as small eruptions with distinct morphologies along tendons such as the achilles tendon
Xanthomas
173
sharply demarcated yellowish collections of cholesterol in foam cells observed underneath the skin and especially on the eyelids
Xanthelasmata
