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bio 340 exam 2
genetics
29
Biology
Undergraduate 2
10/19/2012

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Term
acentric fragment
Definition
chromosomal fragment without a centromere which will be lost during nuclear division
Term
allopolyploid
Definition
polyploid individual or species whose chromosomes derive from two or more closely related species
Term
aneuploidy 
Definition
condition in which the somatic chromosome complement of an individual is not an exact multiple of the haploid number of chromosomes found in the gametes of the species due to addition or loss of one or more whole chromosomes
Term
autopolyploid
Definition
polyploid individual or species in which all chromosomes derive from the same species
Term
balancer chromosome
Definition
a strucurally altered chromosome carrying one or more inversions or translocations that is used to maintain detrimental recessive mutants in the homolog with normal gene order by crossover suppression i.e. production of inviable crossovers. A dominant mutant marker is usually incorporated into a balancer chromosome to make its presence visible
Term
chromosomal aberration
Definition
change in the normal number or structure of a chromosome
Term
chromosomal rearrangement 
Definition
mutation in the structure of a chromosome 
Term
crossover suppressor
Definition
see balancer chromosome 
Term
deletion or deficiency
Definition
a mutation caused by the loss or deletion of part of a chromosome
Term
dicentric chromosome
Definition
one with two centromeres that forms an anaphase bridge during nuclear division which breaks causing deleted and duplicated chromosomal regions in daughter nuclei
Term
disomy
Definition
condition in which the somatic chromosome complement is 2n or twice the number of chromosomes found in gametes of the species
Term
down syndrome or trisomy 21
Definition
the syndrome expressed by humans having the abnormal karyotype 47, +21
Term
duplication
Definition
a chromosomal aberration in which a segment of a chromosome is repeated
Term
euploidy 
Definition
condition in which the somatic chromosome complement of an individual is a multiple of the species full monoploid set of chromosomes
Term
familial down syndrome or partial trisomy 21
Definition
inherited type of down syndrome caused by a translation of chromosome 21 to an autosome usually chromosome 14 which results in trisomy for most of chromosome 21
Term
gene amplification 
Definition
increase in the copy number of a gene. gene amplification can occur by differential replication of a gene within a chromosome by chromosomal duplication by replication of whole chromosomes or by extrachromosomal replication
Term
inversion                                                                                                                                                                                                                               
Definition
a chromosomal aberration in which a segment of the chromsome is reversed. A paracentric inversion does not include the centromere in the inverted segment while a pericentric inversion does
Term
magnification 
Definition
three neculeotide sequences amplified from 10-50 copies up to 1000 copies in or near a gene
Term
monosomy
Definition
aneuploid condition in which the somatic chromosome compliment is 2n-1
Term
nullisomy
Definition
aneuploid condition in which the somatic chromosome complement is 2n-2 due to the loss of one pair of homologs
Term
point mutation
Definition
mutation that can be mapped to single locus at the molecular level the substitution, deleteion or addition of a single necleotide pair in the DNA of a gene
Term
polyploidy
Definition
euploidy in which the somatic chromosome complement is 3x or greater
Term
position effect
Definition
a change in the expression of a gene resulting from a change in its position within the genome. Variegated position effect appears as a mosaic pattern caused by an instability in the phenotypic expression of a gene moved to a new position into or adjacent to heterochromatin.
Term
tetrasomy
Definition
aneuploid condition in which the somatic chromosome complement is 2n+2 one set of homologous chromosomes having two additional homologs
Term
translocation
Definition
a chromosomal aberration in which a segment of one chromosome is transferred to another. The most common is a reciprocal translostion in which nonhomologous chromosomes have exchanged segments.
Term
transposable element
Definition
a DNA sequence capable to moving from one location to another in a genome. (jumping genes)
Term
triplody
Definition
euploidy in which the somatic chromosome complement is 3x
Term
Trisomy
Definition
aneuploid condition in which the somatic chromosome complement is 2n+1. In double trisomic individuals two different pairs of homologous chromosomes have an extra long homolog
Term
unequal crossing over
Definition
crossing over associated with asymmetrical pairing of duplicate genes in individuals homozygous for the duplication and resulting in three gene copies in one crossover product and one copy in the other.
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