Biol564: Molecular Genetics Of Development, Exam 2

Front 1

Alleles
(defined as)

Back 1

two flavors of the same gene; same gene, different sequence.
(defines)

Front 2

Wild type
(defined as)

Back 2

what we consider normal, normal individual / function in terms of genetics
(is called)

Front 3

Variant or mutant allele
(technical definition)

Back 3

an allele found in at least 15% of the population
(is the technical definition of a)

Front 4

Haplotype
(professor's definition, wikipedia's definition)

Back 4

Prof: The set of genes you inherit; this is considered upon transplantation and in immunology.
Wikipedia: "A group of alleles that are transmitted together"
(defines)

Front 5

Polymorphism
(defined as)

Back 5

a change in the sequence (from SNP to insertion or deletion)
(is called a)

Front 6

Pleiotropic
(defined as)

Back 6

"occurs when a single gene influences multiple phenotypic traits. Consequently, a new mutation in the gene may have an effect on some or all traits simultaneously."
(defines)

Front 7

hemizygous
(defined as)

Back 7

having only one of things that generally come in sets
(defines)

Front 8

compound heterozygous
(defined as)

Back 8

Carrying two different mutations in each allele of a gene.
(defines)

Front 9

De novo mutations
(occur when / where, cause what)

Back 9

occur in the egg or sperm or just after fertilization; not generally seen in parents but usually passed on to offspring; can cause mosaicism
(defines this type of mutation)

Front 10

Acquired (or somatic) mutations
(occur when)

Back 10

occur in cells during a person’s life
(characterizes this type of mutation)

Front 11

Reduced penetrance
(defined as)

Back 11

when you have the mutation but you don't see the full phenotype (maybe there are other genes or environmental factors that are important)
(we say the disease has)

Front 12

Variable expressivity
(defined as)

Back 12

Different manifestations of the same disease between individuals
(is called)

Front 13

Modifying loci
(is a loci that)

Back 13

affects whether the phenotype shows up like this or like that or at all
(defines this type of locus)

Front 14

Housekeeping proteins
(are proteins that)

Back 14

are present in every cell and maintain cell structure and function
(are these types of proteins)

Front 15

Allelic heterogeneity
(is the state of)

Back 15

occurrence of more than one allele at a locus (and for our sake "causing a similar genetic disorder").
(is the definition of)

Front 16

Locus heterogeneity
(is defined as)

Back 16

the association of more than one locus with a phenotype
(is considered)

Front 17

Clinical or phenotypic heterogeneity
(is defined as)

Back 17

the association of more than one phenotype with mutations at a single locus
(is called)

Front 18

meconium ileaus
(is a)

Back 18

postnatal lower intestinal tract obstruction
(is called)

Front 19

meconium
(greek meaning)

Back 19

first bowel movement;
Mecon means first bowel movement in greek;
(english clinical word for this)

Front 20

ileaus

Back 20

Ileus means obstruction of the bowel;
Ile means intestine or twisting and rolling in Latin and Greek, respectively;
(english clinical word)

Front 21

Bronchiectasis
(defined as)

Back 21

injury to lungs in which airways are stretched out, scarred, and can no longer move air in or out;
Ecta means "stretched out" in Greek.
(is called)

Front 22

Tel is Latin for "a web".
Angi is Greek for "a vessel".
Ecta is Greek for "an extension or dilation".
(describes what features of what disorder)

Back 22

Prominent blood vessels usually seen in the eyes and cheeks, telangiectasia
(explained in greek)

Front 23

Consanguinity
(definition)

Back 23

a family relationship through parentage or descent. A blood relationship
(defines)

Front 24

Foetoscopy
(is a)

Back 24

prenatal diagnosis that allows direct observation of a fetus in the uterus and the withdrawal of fetal blood
(defines this test)

Front 25

TUNEL
(stands for)

Back 25

Terminal deoxynucleotidyltransferase dUTP nick end labeling
(generates the method acronym)

Front 26

Ectopic gene expression
(defined as)

Back 26

Inappropriate expression in time or place
(defines)

Front 27

Pseudogenes
(defined as)

Back 27

a normal looking gene (in terms of sequence and functional components), yet it is unexpressed
(defines this kind of gene)

Front 28

Locus control region
(does what)

Back 28

Regulates spatial and temporal expression of genes in cluster
(is the function of this genetic entity)

Front 29

Dor Yeshorim testing
(meaning, function)

Back 29

"upright generation", test Jewish teens for carrier-ness of Tay Sachs
(defines this group)

Front 30

Achondroplasia
(literal interpretation)

Back 30

"without cartilage formation"
(is the literal definition of this disease name)

Front 31

rhizomelic
(defined as)

Back 31

proximal shortening of the arms and legs and redundant skin folds on limbs
(is called)

Front 32

Genu varum
(means)

Back 32

bow legs
(is clinically called)

Front 33

Large head
(is called)

Back 33

macrocephaly
(is having a)

Front 34

large brain
(is called)

Back 34

megalencephaly
(is having a)

Front 35

frontal bossing
(is having a)

Back 35

prominent forehead
(is called)

Front 36

Dolichostenomelia
(is the clinical term for this abnormality)

Back 36

a human condition or habitus in which the limbs are unusually long
(is clinically called)

Front 37

Pectus excavatum
(means)

Back 37

(a Latin term meaning hollowed chest)
a condition in which the sternum is abnormally depressed
(is clinically called)

Front 38

Pectus carinatum
(is the clinical term for this abnormality)

Back 38

also called pigeon chest, a deformity of the chest in which the sternum is abnormally prominent or sticks out
greek: carīnātus, equiv. to carīn(a) keel),
(defines the condition clinically described as)

Front 39

lupus
(is latin for)

Back 39

wolf
(in latin, is)

Front 40

Threshold liability
(is a theory of disease susceptibility that proposes)

Back 40

If you have lots of susceptibility genes, maybe you only need few environmental factors and vice versa.
Think stacked boxes that represent genes and environmental factors and other factors.
(this theory is described as the)

Front 41

Arachnodactyly
(defined as)

Back 41

also known as "spider fingers", this is a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand
(clinical term)

Front 42

Qualitative trait
(define)

Back 42

individual either has or does not have the phenotype
(this describes this type of trait)

Front 43

Quantitative trait
(defined as, examples of)

Back 43

individuals have measurable quantity of a phenotype, often following a normal distribution
Height, blood pressure, serum cholesterol, age of onset of Alzheimer disease
(describes this type of trait)

Front 44

Proband
(is defined as)

Back 44

Affected family member through which a disease is ascertained; that is, the one that draws the attention of medical examination to the family
(is called the)

Front 45

Concordants
(are related how)

Back 45

A pair of relatives that both have a qualitative trait or a quantitative trait of similar magnitude
(are described as)

Front 46

discordants
(relate in what manner in genetic studies)

Back 46

a pair of relatives where one has a qualitative trait and the other either does not have the trait or has it on the opposite side of the spectrum
(are called)

Front 47

Recall bias
(is described as)

Back 47

the increased motivation to respond due to familiarity of disease
(describes this kind of bias)

Front 48

Syntenic
(professor and wikipedia definitions)

Back 48

Genes are on the same chromosome. ref = Professor;
Genes are on the same chromosome but are not close enough for linkage to be demonstrated (web)
(defines this descriptor of two loci)

Front 49

Premonitory urges
(defined as)

Back 49

sensation before the tick that causes the tick; scratchy throat causes grunt
(is called)

Front 50

Fluoxetine
(also known as)

Back 50

Prozac
(also known as)

Front 51

Basal Ganglia circuitry
(is responsible for)

Back 51

allowing or preventing a motor pattern
(is controlled by the)

Front 52

Central tolerance
(is generated by)

Back 52

Autoreactive lymphocytes
removed during development
(generates)

Front 53

Peripheral tolerance
(is achieved through)

Back 53

Autoantigen expressed
at a high level, in immunologically privileged
site or does not activate T cell
(generates)

Front 54

Regulatory T cells
(defined as)

Back 54

Cells with specific
properties that inhibit an immune response
(defines this type of cell)

Front 55

“hygiene hypothesis”
(posits that)

Back 55

the immature immune system needs to be challenged
early in life to develop normally
(is the premise of the)

Front 56

Coloboma
(defined as)

Back 56

a failed closure of choroid fissure
(is called)

Front 57

Atresia Chaonae
(is defined as)

Back 57

a narrowing / blockage of rear nasal passages
(is called)

Front 58

Hydrops fatalis
(defined as)

Back 58

massive fluid accumulation
(is called)

Front 59

echolalia
(is the habit of)

Back 59

repeating words that other say
(is called)

Front 60

coprolalia
(is the habit of)

Back 60

shouting obscenities
(is called)