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135 Cards in this Set

  • Front
  • Back
Drug responses and their gentically controlled variables....
pharmacogenetics.
The application of genomic info or methods to pharmocogenetic problems is called....
pharmacogenomics
A mimic of phenotype brought on by environmental factor...
Phenocopy
Abnl chromosone 22 in some bone marrow cells of patients with chronic myelogenous leukemia
Philadelphia chromosome (Ph1)
Map showing gene order, markers and distances apart.
physical maps
Independently replicating, extrachromosomal circular DNA in bacteria or yeast
plasmids
Plasmids are commonly used for______
vectors
Multiple phenotypic effects of a single gene or gene pair.
Pleiotropy
An embryonic cell with maximum potential
pluripotent
A single nucleotide base pair change in DNA
point mutation
In synthesis of MRNA a site with 20 to 200 adenosines added to the 3' end
polyadenylation site
Inheritance determined by many genes at different loci with small additive effects
polygenic
Technique to amplify short DNA/RNA.
Polymerase chain reaction (PCR)
Any multiple of haploid chromosome # other than diploid (3n, 4n ...)
Polyploid
The molecular cloning of a gene on the basis of knowledge of map location..
positional cloning
Premutation
in triplet repeat disorders, increased risk of expansion and disease
The initial RNA transcript containing introns and extrons
primary transcipt
A short oligonucleotide joins to Single strand DNA and provide free DNA end
Primer
a very rare mutation, perhaps in single family or single population
Private mutation
DNA sequence located on 5' end of gene at which transcription is initiated
promotor
first stage of cell division
Prophase
The chromosomes become visible as discrete structures then shorten and thicken.
Prophase
Pairing (synapsis) of homologous chromosomes characterizes ....
prophase of the first meiotic division
Cell with 2 separate nuclei formed from 2 genetically different cells
heterokaryon
A normal variant of a chromosome
heteromorphism
The boundary between 3' end of an intron and 5' end of the following extron...
acceptor splice site
chromosome with centromere near one end..
acrocentric
human acrocentric chromosomes
13,14,15,21, 22
human acrocentric chromosomes have satellited short arms that carry...
genes for ribosomal RNA
Non random mating
assortative mating
mutation that generates a stop codon
chain termination mutation
pair of similar relatives
concordance
region of an amino acid related to particular funciton
domain
tumor suppressor genes that directly regulate cell proliferation
gatekeeper genes
In molecular biology a fragment of foreign DNA cloned into a vector
insert
mutation that generates a stop codon
chain termination mutation
phenom of X-inactivation
Lyonization
pair of similar relatives
concordance
region of an amino acid related to particular funciton
domain
Mary Lyons
geneticist, x-inactivation
proto-oncogene
nl gene that may be activated to become an oncogene
tumor suppressor genes that directly regulate cell proliferation
gatekeeper genes
RFLP
Restriction fragment length polymorphism
In molecular gioloty a fragment of foreign DNA cloned into a vector
insert
polymorphic difference in DNA sequence between individuals recognized by restrictive endonuclases
restriction fragment length pppolymorphism
RFLP
phenom of X-inactivation
Lyonization
Exchange of DNA between sister chromatids
Sister chromatic exchange
Mary Lyons
geneticist, x-inactivation
sister chromatid occurs in _____ strand stage of meiosis or in ______.
four
mitosis
proto-oncogene
nl gene that may be activated to become an oncogene
substitution of one purine for another or one pyrimidine for another.
transition mutation
RFLP
Restriction fragment length polymorphism
A fertilized ovum
zygote
polymorphic difference in DNA sequence between individuals recognized by restrictive endonuclases
restriction fragment length polymorphism
RFLP
mice that carry a foreign gene
transgenic mice
Exchange of DNA between sister chromatids
Sister chromatic exchange
sister chromatid occurs in _____ strand stage of meiosis or in ______.
four
mitosis
substitution of one purine for another or one pyrimidine for another.
transition mutation
A fertilized ovum
zygote
mice that carry a foreign gene
transgenic mice
A polymorhism in DNA sequence consisting of variation in a single base
Single nucleotide polymorphism (SNP)
SNP
single nucleotide polymorphism
An enzyme which recognizes a specific sequence of DNA, cleaves it within the recogniation site or at a nearby site
Restriction enzyme
another name for restriction enzyme
restriction endonuclease
The fraction of individuals with a genotype known to cause disease and have symptoms of the disease.
penetrance
a pedigree in which there is more than one case of a partiular disorder
multiplex
loss of a normal allele
loss of heterozygosity
LOH
loss of heterozygosity
feature of many cases of retinoblastoma, breast cancer and other tumorsdue to mutation of a tumor-suppressor gene
loss of heterozygosity
Small group of cells within embryo that become embryo
inner cell mass
Chromatin that stains darkly throughout the cell cycle even in interphase
Heterochromatin
A reproductive cell with haploid chromosome number
gamete
An enzyme that can synthesize a new DNA strance
DNA polymerase
a genotype or ind'l with 2 different mutant alleles at the same locus
compond heterozygote
any region of genome containing unusually high concentration of dinucleotide sequence 5'-CG-3'.
CG island or CpG
One of the alternative versions of a gene that may occupy a given locus
Allele
grafts in the same animal from one part to another
autologous
malignant cells and the cells of the individual in which they have arisen
autologous
positions in the cell cycle
checkpoints
dominant negative
disease causing allele that disrupts wild type allele
the number of copies of a particular gene in the genome
gene dosage
presence of more than one type of mito DNA in the mito of one ind'l
heteroplasmy
in situ hybridization
gene mapping
joins with antigen to carry to cell surface for T cell response,
MHC
an abnormal growth produced imbalance of normal cellular proliferation and normal cellular attrition
neoplasia
pseudodeficiency allele
clinically benign allele
short sequence of CNA that can be recognized and but by a specific restriction endonuclease
restriction site
mutational mechanism, which repeats one or more nucleotides, mispairs and generates a deletion or expansion on the number of repeats
slipped mispairing
synthesis of a polypeptide from its mRNA template
translation
MZ
monozygotic
to determine whether a certain pair of is MZ or DZ is to determine their______
zygosity
a mutation caused by substitution of a purine for a pyrimidine or vice versa.
transversion
certain cell lines, such as cancer cells, are able to grow indefinately in culture.
transformation
Simplex
the term used to describe a family history with only one member affected by a genetic disorder
Replication error positive
phenotype of cancer cells. mispairing errors lead to tissue mosaicism
Parologous
two or more genes in a single species that are similar in DNA sequence and encode proteins with similar but not identical funcitons.
Multifactorial inheritance
nonmendalian inheritance, traits are determined by combination of multiple factors
arrangement of chromatin, packaged as solenoids, attached to chromosome scaffod
loops
L1 family
class of repetitive DNA occuring in several hundred thousand copies in the genome
induction
determine the fate of one region of an embryo by extracellular signals from a second usually neighboring region.
The fraction of total phenotypic variance of a quantitative trait that is due to genetypic differences
heritability
Gain-of-function mutation
incrases one or more normal functions
DNA methylation
addition of methyl residue to the 5-position of the pyrimidine ring of cytosine base in DNA to form 5-Methylcytosine
complementation
two mutations, each correcting the other
centrosomes
pair of centers that organize the growth of microtubules of mitotic spindle
centrosomes are visible at the poles of dividing cells during which phase
late prophase
Affected pedigree member method
model=free method of linkage analysis
any nuclear chromosome other than sex
autosome
number of autosomes in human
22 prs
disease caused by mutation in an autosomal gene or gene pair shows ____ inheritance.
autosomal
chiasma
literally a cross
change in expression of the various globin genes during ontogeny
globin switching
a cause of genetic disease in which the contribution from normal allele is insufficient to prevent disease, owing to loss-of-funciton mutation at the other allele
haploinsufficiency
non staining gap in chromatin of a metaphas chromosome
fragile site
a birth defect caused by the destruction of tissue
disruption
the process cell acquires a tissue-specific pattern of expression of genes and proteins and a characteristic phenotype
differentiation
stage of first meotic division =human oocytes remains from late fetal life until ovulation
dictyotene
FISH
fluorescence in situ hybridization technique
CGH
comparative genome hybridization
Flourescent technique to compare two DNA samples
comparitive genome hybridization
to determine whether a certain pair of is MZ or DZ is to determine their______
zygosity
a mutation caused by sustition of a purine for a pyrimidine or vice versa.
transversion
certain cell lines, such as cancer cells, are able to grow indefinately in culture.
transformation
Simplex
the term used to describe a family history with only one member affected by a genetic disorder
Replication error positive
phenotype of cancer cells. mispairing errors lead to tissue mosaicism
Parologous
two or more genes in a single species that are similar in DNA sequence and encode proteins with similar but not identical funcitons.
Multifactorial inheritance
nonmendalian inheritance, traits are determined by combination of multiple factors
arrangement of chromatin, packaged as solenoids, attached to chromosome scaffod
loops
L1 family
class of repetitive DNA occuring in several hundred thousand copies in the genome
induction
determine the fate of one region of an embryo by extracellular signals from a second usually neighboring region.
The fraction of total phenotypic variance of a quantitative trait that is due to genetypic differences
heritability
Gain-of-function mutation
incrases one or more normal functions
DNA methylation
addition of methyl residue to the 5-position of the cyrimidine ring of cytosine base in DNA to form 5-Methylcytosine
complementation
two mutations, each correcting the other
centrosomes
pair of centers that organize the growth of microtubules of mitotic spindle