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36 Cards in this Set

  • Front
  • Back
follicular and undifferentiated lymphomas
breast, ovary, stomach cancer
small cell lung cancer
what is pleiotropy?
single mutation exerts multiple effects
when are Barr bodies seen?
any individual with 2 X chromosomes
what is variable expression?
nature and severity of phenotype varies from 1 individual to another
what is incomplete penetrance?
not all individuals with a mutant genotype show the mutant phenotype
what is pleiotropy?
one gene has more than one effect on an individual's phenotype
whatis imprinting?
differences in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. angelman's - maternal; prader-willi - paternal)
what is it called when a the severity of a disease worsens or age of onset of disease is earlier in succeeding generations?
what is loss of heterozygosity?
if a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops - not true for ongogenes
what is a dominant negative mutation?
exerts a dominant effect - a heterozygote produces a nonfunctional altered protein taht also prevents the normal gene product from functioning
what is linkage disequilibrium?
tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - measured in a population, not a family, and often varies in different populations
what is mosaicism?
occurs when cells in the body have different genetic makeup - e.g. lyonization - random X inactivation in females
what is locus heterogeneity?
mutations at different loci can produce the same phenotype (e.g. albinism)
if a population is in Hardy-Weinberg equilibrium, then disease prevalence equals what?
p2 + 2pq + q2 = 1
if a population is in Hardy-Weinberg equilibrium, then what does allele prevalence equal?
p + q = 1
for Hardy-Weinberg - p and q are separate alleles: what does 2pq equal?
heterozygote prevalence
hypophosphatemic rickets is inherited in what manner?
X-linked dominant - transmitted through both parents - either male or female offspring of the affected mother may be affected, while all female offspring of the affected father are diseased
name 2 diseases with mitochondrial inheritance
Leber's hereditary optic neuropathy; mitochondrial myopathies
what is heteroplasmy?
presence of normal as well as mutated mitochondrial DNA
what is nondisjunction?
failure of separation of chromosomes
what is a balanced translocation?
occurs when non-homologous chromosomes exchange genetic material in such a way that no critical genetic material is lost
what is an unbalanced translocation?
occurs when non-homologous chromosomes exchange genetic material with a net loss or gain of critical genetic material
what is an inversion?
chromosomal rearrangement in which the central segment produced by two breaks is inverted prior to repair of the breaks
inversions that include the centromere are called what?
what do you call inversions that don't include the centromere?
what is the outcome of a crossoer event within a paracentric inversion?
formation of an acentric fragment and dicentric bridge - this cell will not complete meiosis
an abnormality in what can produce tirpolar mitoses?
mitotic spindle
what is synapsis?
pairing of homologous chromosomes with which meiosis begins
the incidence of an X-linked recessive disease in the male portion of a population is a direct estimate of what?
the gene frequency in the population
what is confined placental mosaicism?
consequence of a genetic aberration occuring in the trophoblast or in extraembryonic progenitor cells in the ICM - the genetic abnormality leads to abnormal placental development and intrauterine growth retardation
what is the only topoisomerase that can introduce negative supercoils into DNA?
DNA gyrase - used to stabilize underwound helices
what do hammerhead ribozymes do?
catalyze sequence-specific cleavage of RNA phosphodiester bonds due to the secondary structure they form