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Biochemistry- Unit One
Normal Chromosomes (T Pierce)
17
Medical
Post-Graduate
01/26/2009

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Cards

Term
How are chromosomes distinguished in human karyotype?
Definition
length and location of centromere
Term
Define acrocentric chromosomes
Definition
centromeres at end of chromosome
Term

Importance of groups D and G of chromosomes

Definition
  • D-13, 14, 15
  • G- 21, 22

These groups are capable of havin translocations due to their acrocentric chromosome nature

Term
Process of Giemsa banding
Definition
  1. chromosomes treated with trypsin to digest proteins
  2. Giemsa stain
  3. each chromosome will stain a characteristic pattern (light and dark)
    1. correlate with underlying DNA sequence
Term
During what phase of mitosis do chromosomes become visible under the light microscope
Definition
prophase
Term
Structure of chromosome
Definition
  • fluid and dynamic
  • when fully condenses, DNA is 1/10000 of its fully extended state
  • when reveal bands, as many as 1000 can be recognized
    • each band has 50 or more genes
Term
During meiosis, how is the chrom. number reduced in half?
Definition

paring of homologes in prophase and by their segregation into different cells at anaphase

Term
Importance of recombination
Definition

ensures proper segregation during meiosis, and if done improperly, can get chromosome missegregation in meiosis I (Down's syndrome)

Term

Process of Q banding

Definition
  1. stain with quinacrine mustard or related compounds
  2. examine with fluorescence microscopy
  3. chromosomes appear with bright and dim bands
    1. bright Q bands correspond almost exactly to dark bands after G banding
Term
Process of R banding
Definition
  1. special treatment (ex: heating) before staining
  2. results in dark in light bads that are teh reverse of those produced by G or Q bands
Term
Define metacentric crhomosomes
Definition
centromeres are in center with arms of equal length
Term
Define submetacentric
Definition
  • chromosomes with off center centromere and two arms with clearly different lengths
Term
Robertsonian translocation
Definition
loss of p arms in acrocentric chromosomes that does not have phenotypic effect (appear as balanced phenotype)
Term
Purpose of FISH
Definition
examine presence/absence of particular DNA sequence or to evalutate number or organization of chromosome or chromosome region
Term
define satelites
Definition
small distinctive masses of chromatin seen on acrocentric chromosomes that are attached to the short arms by narrow stalks (secondary constrictions)
Term
What do satellite genes code for?
Definition
rRNA (major component of ribosomes)
Term
Purpose of CGH
Definition
  • assess relative copy number of genomic DNA sequences in a comprehensive, genome-wide manner
  • using microarrays to detect microdeletions and microduplications associated with disorders
  • ID copy number polymorphisms or variants can be IDed
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