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Molecular Genetics Lab
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what are chromosomes made of
DNA
how are genes arranged on chromosomes
in linear order
how many chromosomes are found in a normal human body cell
46
how many chromosome pairs do humans have
23
what is a centromere
constricted region that divides chromosome arms
what is the p arm of a chromosome
short are
what is the q arm of a chromosome
long arm
what are telomeres
protective ends of chromosomes
does one chromosome band equal one gene
no; band may contain a few to several hundred genes
what three features are used to identify chromosomes
size, banding pattern, and centromere positions
what are four centromere position categories
metacentric, submetacentric, acrocentric, and telocentric
what is a locus
position of a gene or DNA marker on a chromosome
what is a karyotype
photomicrograph of chromosomes arranged according to a stranded classification
what does a karyotype show
individuals chromosome complement
why do chromosome abnormalities cause disorders
alter the amount of gene products (proteins)
what is trisomy
three copies of a chromosome
what is monosomy
one copy of a chromosome
what is duplication
repeated chromosome segment
what is deletion
loss of a chromosome segment
what is a translocation
movement of chromosome material to another chromosome
what is an inversion
chromosome segment reversed in orientation
what is a robertsonian translocation
involving fusion of chromosomes shown with chromosomes 13 and 14
what chromosome translocation is associated with chronic myelogenous leukemia
t(9;22)
which chromosome is involved in the philadelphia chromosome
22 after translocation with 9
what syndrome results from deletion of the short arm of chromosome 5
cri du chat
what organisms are polytene chromosomes commonly found
insects, drosophila
why are polytene chromosomes considered giant chromosomes
undergo repeated DNA duplication without cell division
what is a chromocenter
structure where duplicated homologous chromosomes are jointed at centromeres
why are polytene chromosomes useful
chromatids are banding patterns are easily observed
what is a chromosome puff
region of a polytene chromosome undergoing active transcription
what does the presence of a chromosome puff indicate
gene transcription is occuring
what do chromosome puffs demonstrate about chromatin
chromatin structure and gene activation are linked