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Genetics Exam 1
VCOM Block 1 2011
50
Biology
Graduate
09/23/2011

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Term
p arm
Definition
short arm of chromatid
Term
q arm
Definition
long arm of chromatid
Term
leptoteme
Definition
chromatin begins to condense into elongated chromosomes
Term
zygoteme
Definition
based on homology, homologs pair side by side to form bivalents
Term
pachyteme
Definition
formation of synapses resulting in tetrad structures; crossing over begins to occur
Term
diploteme
Definition
chiasmata evident between homologous chromatids
Term
diakinesis
Definition
terminalization occurs as the chiasmata move towards telomeres
Term
WBCs
Definition
most common source for obtaining adult chromosomes
Term
skin scrapings
Definition
used to determine mosaicism
Term
amniocentesis
Definition
most common source for obtaining fetal chromosomes
Term
hypotonic saline
Definition
used to burst cells open on microscope slides
Term
G staining
Definition
most common method of staining karyotype
Term
aneuploidy
Definition
abnormal chromosome number due to gain or loss of chromosomes
Term
meiotic non-disjuction
Definition
can produce disomic or nullisomic gametes
Term
mitotic non-disjuction
Definition
occurs in utero. results in some normal and some abnormal cells within the same invidivual (mosaicism)
Term
polyploidy
Definition
when a cell contains one or more extra sets of chromosomes
Term
translocations
Definition
transfer of genetic material from one chromosome to the end of another
Term
Robertsonian translocation
Definition
when two acrocentric chromosomes lose their satellite DNS and fuse together
Term
insertion
Definition
when genetic material from one chromosome is placed internally within another chromosome
Term
inversion
Definition
a portion of a chromosome breaks and then flips before reattaching
Term
ring chromosomes
Definition
results in break at both telomeres, sticky ends join together; very unstable at mitosis
Term
isochromosomes
Definition
results from the loss of one chromosomal arm and subsequent duplication of the remaining arm
Term
sequence specific probes
Definition
allow detection of microdeletions and microduplications
Term
centromeric probes
Definition
allow detection of aneuploidy
Term
telomeric probes
Definition
useful in diagnosis of unxeplained mental retardation
Term
chimerism
Definition
when an individual has two chromosomally distinct cell populations that were derived from different zygotes
Term
dispermic chimeras
Definition
when two zygotes fuse to form a single embryo; can result in a hermaphrodite
Term
blood chimeras
Definition
exchange of cells between non-identical twins via the placenta
Term
haploinsufficiency
Definition
when activty in heterozygote not enough to allow function
Term
pleiotropy
Definition
when a disorder involves more than one organ system
Term
variable expressivity
Definition
when the severity of a genetic disorder shows significant differences in different affected individuals
Term
reduced penetrance
Definition
when individuals with a genetic disorder fail to demonstrate clinical symptoms
Term
de novo mutations
Definition
affected individual could be a mosaid or mutation could have occured in a parental germ line
Term
locus heterogeneity
Definition
when two or more different genes can produce the same disorder
Term
allelic heterogeneity
Definition
results from mutations at more than one site within a gene
Term
skewed X inactivation
Definition
disorder carrying X chromosome is the primary activated chromosome in tissue affected by disorder
Term
partial sex linkage
Definition
gene found in pseudoautosomal regions. appear to demonstrate X linnked in some families but autosomal in others
Term
genomic imprinting
Definition
when the effect of a mutation is dependent upon from which parent the trait was inherited
Term
mitochondrial inheritance
Definition
maternallt inherited. most affects brain and muscle
Term
polygenic inheritance
Definition
phenotype is dependent on additive effect of several genes and different loci
Term
anticipation
Definition
when a genetic disease occurs at an earlier age or with increasing severity in successive generations
Term
somatic mosaicism
Definition
only a certain portion of somatic cells affected; accounts for varying degrees of severity of certain disorders
Term
gonadic mosaicism
Definition
found to be the cause of autosomal dominant disorders among siblings even though both parents lack the disorder
Term
uniparental disomy
Definition
an individual has a set of homologes that were both derived from the same parent
Term
uniparental isodisomy
Definition
error in meiosis II resulting in two copies of the same homolog
Term
uniparental heterodisomy
Definition
error in meiosis I resulting in both homologs from a single parent
Term
multifactorial inheritance
Definition
the phenotype is determined by multiple genes and environmental factors
Term
heritability
Definition
the proportion of phenotypic variation attributable to genetic variance or the extent to which genetic individual differences contribute to individual phenotypic differences
Term
liability curves
Definition
how you calculate heritability
Term
epigenetics
Definition
changes in gene expression that occur without changes in the DNA sequence
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