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PA 5260 - Clinical Science > End of Chapter Terms > Flashcards

End of Chapter Terms Flashcards

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Biology 101 flashcards
1
Q

Any of the alternative forms of a given gene

A

allele

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2
Q

Prenatal test in which a small sample of amniotic fluid is removed for testing

A

amniocentesis

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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

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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

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5
Q

All chromosomes other than the sex chromosomes

A

autosomes

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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)

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7
Q

alteration in the number or physical structure of chromosomes

A

chromosomal aberration

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8
Q

DNA molecule that contains genes in linear order to which numerous proteins are bound

A

chromosome

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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

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10
Q

Degree of relationship between persons who descend from a common ancestor

A

consanguinity

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11
Q

a feature of the genetic code in which an amino acid corresponds to more than one codon

A

Degenerate

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12
Q

loss of chromosomal material

A

Deletion

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13
Q

a macromolecule usually composed of two polynucleotide chains in a double helix that is the carrier of genetic material

A

DNA

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14
Q

refers to an allele whose presence in a heterzygous genotype results in a phenotype characteristic of the allele

A

Dominant

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15
Q

a chromosomal dysgenesis syndrome consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21

A

Down syndrome

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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

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17
Q

systematic study of an organism’s genome using large-scale DNA sequencing, gene-expression analysis

A

genomics

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18
Q

a mutation that takes place in a reproductive cell

A

Germinal mutations

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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

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20
Q

Carrying dissimilar alleles of one or more genes

A

heterozygous

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21
Q

having the same allele of a gene in homologous chromosomes

A

homozygous

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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

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23
Q

a structural aberration in a chromosome in which the order of several genes is reversed from the normal order

A

inversion

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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

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25
Q

the site or position of a particular gene on a chromosome

A

locus

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26
Q

the mechanism of inheritance in which the statistical relations btw the distribution of traits in successive generations result from three factors

A

mendelian genetics

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27
Q

an RNA molecule that is transcribed from a DNA sequence and translated into amino acid sequence of a polypeptide

A

Messenger ribonucleic acid mRNA

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28
Q

a small circular chromosome found in each mitochondria that encodes tRNA rRNA and proteins involved in oxidative phosphorylation and ATP generation

A

Mitochondrial chromosome

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29
Q

controlled by a single gene

A

monogenic

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30
Q

a condition in an otherwise diploid organism in which one member of a pair of chromosomes is missing

A

Monosomy

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31
Q

heritable alterations in a gene or chromosome

A

mutation

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32
Q

failure of chromosomes to separate and move to opposite poles of the division spindle loss or gain or chromosome

A

nondisjunction

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33
Q

a diagram representing the familial relationship among relatives

A

pedigree analysis

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34
Q

genetic disorder resulting from the combined action of alleles of more than one gene

A

polygenic

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35
Q

refers to an allele or the corresponding phenotypic trait, that is expressed only in homozygoutes

A

recessive

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36
Q

a type of RNA molecule that is a component of the ribosomal subunits

A

rRNA

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37
Q

a chromosome that plays a role in the determination of sex x y

A

sex chromosomes

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38
Q

a mutation arising in a somatic cell

A

somatic mutation

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39
Q

DNA - ssRNA

A

transcription

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40
Q

translates a codon into an amino acid

A

tRNA

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41
Q

mRNA -> protein

A

translation

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42
Q

a mutation results from an exchange of parts of two chromosomes

A

translocation

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43
Q

disorder in which a normally diploid organism has an extra copy of one of the chromosomes

A

trisomy

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44
Q

protein that does not achieve its full length or its proper form, cannot perform its function

A

truncated protein

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45
Q

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

A

Turner Syndrome

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46
Q

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

A

CFTR gene

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47
Q

differentially labeled, chromosome-specific DNA strands for hybridization with chromosomes to label each chromosome with a different color.

A

chromosome painting

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48
Q

mating between related individuals

A

consanguineous

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49
Q

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

A

Cystic Fibrosis

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50
Q

a genetically determined biochemical disorder, usually in the form of an enzyme defect that produces a metabolic block

A

inborn error of metabolism

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51
Q

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

A

karyotype

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52
Q

the proportion of organisms having a particular genotype that actually express the corresponding phenotype.

A

Penetrance

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53
Q

the enzymes that converts phenylalanine to tyrosine and that is defective in phenylketonuria

A

Phenylalanine hydroxylase (PAH)

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54
Q

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

A

Phenylketonuria (PKU)

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55
Q

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

A

Polymerase chain reaction (PCR)

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56
Q

a labeled DNA or RNA molecule used in DNA-RNA or DNA-DNA hybridization assays

A

Probe

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57
Q

a brother or sister, having the same parents

A

sibling

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58
Q

a membrane that forms a fluid-filled sac around embryo

A

amnion

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59
Q

an early stage of embryo development, which can be recognized through the presence of an inner cell mass

A

blastocyst

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60
Q

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

A

Ectoderm

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61
Q

the developing human within the first 2 months after conception

A

embryo

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62
Q

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

A

Endoderm

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63
Q

the development of relatively MILD degrees of mental deficiency and emotional disorders in children whose mothers use alcohol during their pregnancy

A

fetal alcohol effect

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64
Q

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

A

Hydrocephalus

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65
Q

the cells at the embryonic pole of the blastocyst, which are concerned with formation the body of the embryo

A

inner cell mass (ICM)

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66
Q

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.

A

Mesoderm

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67
Q

abnormal smallness of the head; a term applied to a skull with a capacity of less than 1350mL; associated with mental retardation

A

microcephaly

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68
Q

a form of emergency birth control used to prevent a woman from getting pregnant after she has engaged in unprotected vaginal intercourse

A

morning after pill

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69
Q

the earliest stage of embryo after cell division, consisting of a ball of identical cells

A

Morula

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70
Q

the formation of organs during development

A

organogenesis

71
Q

a group of chemical messengers that communicate with neighboring cells by simple diffusion

A

paracrines

72
Q

the process of birth

A

parturition

73
Q

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

A

phocomelia

74
Q

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

A

placenta

75
Q

the occurrence of cavities in the brain substance, communicating usually with the lateral ventricles

A

porencephaly

76
Q

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

A

trophoblast

77
Q

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;

A

yolk sac

78
Q

fertilized ovum before cleavage begins

A

Zygote

79
Q

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

A

allele

80
Q

from the greek word for dance; the incessant, quick, jerky, involuntary movements that are characteristic for Huntington’s disease

A

Chorea

81
Q

difficult in performing voluntary movement

A

Dyskinesia

82
Q

the product of the Huntington’s disease gene on chromosome 4

A

Huntingtin

83
Q

any substance that can be elevated in inflammatory processes

A

acute-phase reactant

84
Q

a protein product normally produced only in the fetal liver and used as a tumor marker in adults

A

Alpha-fetoprotein (AFP)

85
Q

a total bone marrow failure characterized by a decrease in all blood cells

A

aplastic anemia

86
Q

a disease of the myocardium that has variable etiologies and clinical presentation

A

cardiomyopathy

87
Q

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

A

Carrier

88
Q

A degenerative disease of the liver characterized by formation of fibrous tissue and scarring, resulting in the inhibition of normal cellular function

A

Cirrhosis

89
Q

an imaging study of the liver used to detect the presence of tissue changes such as tumors, abscesses, and cysts

A

hepatic ultrasound

90
Q

inflammation of the liver causing impaired function as a result of toxins, autoimmune disorders, or infectious agents

A

Hepatitis

91
Q

the most common type of non-metastatic liver cancer; also known as primary hepatocellular carcinoma

A

Hepatoma

92
Q

enlargement of the liver

A

Hepatomegaly

93
Q

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

A

Hereditary hemochromatosis

94
Q

the underproduction of a single type of blood cell produced in the bone marrow

A

Myelodysplastic syndrome

95
Q

the portion of individuals carrying a particular mutation who express an associated, observable trait

A

Penetrance

96
Q

the alteration of a single nucleotide to a different nucleotide

A

point mutation

97
Q

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

A

PCR

98
Q

A measure of the amount of iron bound to transferrin

A

serum ferritin levels

99
Q

a measure of the amount of unbound iron that has been transported to the blood

A

serum iron levels

100
Q

a phenotype expressed in both male and females but with different frequencies in the two sexes

A

Sex-influenced phenotype

101
Q

toxic effects that work together such that the total toxic effect is greater than the sum of the two (or more) single effect

A

Synergistic hepatotoxic effects

102
Q

removal of a portion of the blood volume to alleviate symptoms

A

therapeutic phlembotomy

103
Q

a measure of all proteins available to bind iron and an indirect measure of transferrin levels

A

total iron-binding capacity (TIBC)

104
Q

the globulin protein that transports iron to the bone marrow

A

transferrin

105
Q

the portion of transferrin bound to iron. this value is found by dividing the serum iron by the total iron binding capacity

A

transferrin saturation levels

106
Q

variation in disease symptoms among persons with the same mutation

A

Variable expressivity

107
Q

the absence of spermatozoa in semen

A

azoospermia

108
Q

cirrhosis due to biliary obstruction, which may be a primary intrahepatic disease or occur secondary to obstruction of extrahepatic bile ducts

A

biliary cirrhosis

109
Q

failure of the right ventricle of the heart, secondary to enlargement and increased pressure caused by disease of the lungs or pulmonary blood vessels

A

cor pulmonale

110
Q

insulin deficiency and insulin resistance caused by complications from cystic fibrosis

A

cystic fibrosis-related diabetes mellitus

111
Q

obstruction of the intestines due to retention of a dark green wast product (meconium) that is normally passed shortly after a childs birth

A

meconium ileus

112
Q

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

A

portal hypertension

113
Q

excretion of excess fat in the feces

A

steatorrhea

114
Q

an enlarged and tortuous vein, artery, or lymphatic vessel

A

varices

115
Q

the predictability of progressively earlier onset and increased severity of certain diseases in successive generations of affected persons

A

anticipation

116
Q

a pouch or sac opening from a tubular or saccular organ such as the intestines or bladder

A

diverticula

117
Q

inflammation of a diverticulum, small pocket in wall of colon, filled with stagnant fecal matter

A

diverticulitis

118
Q

the complete or almost complete failure of the kidneys to function, can no longer remove wastes, concentrate urine, and regulate electrolytes

A

end stage renal disease ESRD

119
Q

the character of a phenotype produced by mutation at more than one gene or by more than one genetic mechanism

A

genetic heterogeneity

120
Q

relating to an agent that damages the liver

A

hepatotoxic

121
Q

relating to an agent that damages renal cells

A

nephrotoxic

122
Q

a type of kidney cancer in which the cancerous cells are found in the lining of very small tubes in the kidney

A

renal cell carcinoma

123
Q

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

A

triplet repeat expansion

124
Q

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

A

cafe au lait spot

125
Q

axillary and inguinal freckling often associated with type 1 neurofibromatosis

A

crowe sign

126
Q

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

A

glioma

127
Q

a focal malformation that resembles a neoplasm, grossly and even microscopically, but results from faulty development in an organ

A

hamartoma

128
Q

growth of hair in excess of normal

A

hypertrichosis

129
Q

iris hemartomas, typically seen in type 1 neurofibromatosis

A

lisch nodule

130
Q

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

A

merlin

131
Q

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

A

neurofibroma

132
Q

a tumor suppressor gene encoded on chromosome 17 - loss due to mutation in this gene leads to the formation of neurofibromas in type 1

A

neurofibromin

133
Q

A benign encapsulated neoplasm in which the fundamental components is structurally identical to a syncytium of schwann cells. originate particularly in eighth cranial nerve

A

schwannoma

134
Q

a gene that encodes a protein involved in controlling cellular growth; inactivation leads to deregulated cellular proliferation -> cancer

A

tumor suppressor gene

135
Q

any condition in which the number of red blood cells is less than normal per 100mL

A

anemia

136
Q

a situation which frequency of mutated alleles is higher among certain ethnic groups than in others

A

ethnic variation of allelic frequency

137
Q

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

A

hemoglobin c disease

138
Q

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

A

hemoglobin sc disease

139
Q

a mutated allele at the same locus as a normal allele that confers the advantage of protection against a disease and increases survival

A

heterozygote advantage

140
Q

a mutation that confers a new property on the protein product

A

novel property mutation

141
Q

an alteration of a single nucleotide to a different nucleotide

A

point mutation

142
Q

the heterozygous state of the gene for hemoglobin s in sickle cell anemia

A

sickle cell trait

143
Q

an erythrocyte with a dark center surrounded by a light band that is encircled by a darker ring; shooting target

A

target cell

144
Q

an abnormal dilation of the aorta at the level of ascending aorta or the sinuses of valsalva

A

aortic aneurysm

145
Q

a longitudinal tear btw the layers of the aorta that may progress due to the high-pressure flow inside the aorta

A

aortic dissection

146
Q

an ocular abnormality found in persons with familial thoracic aortic aneurysms and dissections that is highly associated with ACTA2 mutations

A

Iris flocculi

147
Q

a purplish skin discoloration in a lacy pattern caused by constriction of deep dermal capillaries

A

livedo reticularis

148
Q

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

A

Marfan syndrome

149
Q

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

A

thoracic aortic aneurysm

150
Q

variation in disease symptoms among persons with the same mutation

A

variable expressivity

151
Q

any condition in which the heart muscle is dysfunctional

A

cardiomyopathy

152
Q

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

A

Fabry disease

153
Q

enlargement of the muscle tissue in the wall of the left ventricle, often involving the intra-ventricular septum

A

left ventricular hypertrophy LVH

154
Q

the heart muscle cells responsible for contractility of the heart

A

myocardium

155
Q

the simplest unit of muscle tissue that allows the muscle to contract

A

sacromere

156
Q

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

A

Wolff-Parkinson-White syndrome

157
Q

a mutated allele that disrupts the function of a normal allele in the same cell

A

dominant negative mutation

158
Q

the production of the same or similar phenotypes by different genetic mechanisms

A

genetic heterogeneity

159
Q

a genotype that determines a phenotype which closely resembles the phenotype determined by a different genotype

A

genocopy

160
Q

structural molecules found in load-bearing tissues

A

microfibrils

161
Q

variation in disease symptoms among persons with the same mutation

A

variable expressivity

162
Q

an alteration in the normal sequence of a gene

A

allele variant

163
Q

chest pain that is precipitated by exertion and relieved by rest; caused by inadequate oxygen delivery to heart muscles

A

angina

164
Q

a corneal disease caused by deposits of phospholipids and cholesterol in the corneal stroma and anterior sclera surrounding the iris of the eye

A

arcus corneus

165
Q

thickening and loss of elasticity of arterial walls, caused by lipid deposits and thickening of the intimal cell layers within arteries

A

atherosclerosis

166
Q

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

A

cholesterol

167
Q

accumulation of random genetic changes in an isolated population as a result of its proliferation from only a few parent colonizers.

A

founder effect

168
Q

a genetic change that increases the activity of a gene protein or increases the production of the protein

A

Gain-of-function mutation

169
Q

a genetic change that reduces the activity of a gene protein or decreases the production of the protein

A

loss-of-function mutation

170
Q

low density lipoprotein

A

the type of lipoprotein responsible for transport of cholesterol to extrahepatic tissues

171
Q

death of the heart muscle, caused by occlusion of the coronary vessels

A

myocardial infarction

172
Q

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

A

Xanthomas

173
Q

sharply demarcated yellowish collections of cholesterol in foam cells observed underneath the skin and especially on the eyelids

A

Xanthelasmata

PA 5260 - Clinical Science (3 decks)

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