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20 Cards in this Set

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Classification of genetic disorders
1 single-gene disorders (autosomal dominant/recessive; X-linked);
2. Chromosome disorders
3. Multifactorial disorders

**(4. Acquired somatic genetic diseases)
Cytogenetics:
study of chromosomes
Genes
are in linear order along chromosomes; each gene having a precise position (____); gene map  map of the location of genes on chromosome (characteristic of ea. species)
locus
Cell Division
G1
(no DNA synthesis occurs);
G0 is ___________ phase;
quiescent
(R) of G1 is the restriction point
stops the cycle under conditions unfavorable to the cell;
mitosis is shortest stage of cell cycle;
....
G1 is followed by S phase (stage of DNA synthesis);
sister chromatids are held together at centromere (a region of DNA that associates w/ a number of specific proteins to form the kinetochore;
G1 is followed by S phase (stage of -----------------;
sister chromatids are held together at centromere (a region of DNA that associates w/ a number of specific proteins to form the kinetochore;
DNA synthesis)
G2 is when
chromosomes begin to condense and ends by mitosis;
cells of dermis of skin divide rapidly;

neurons and RBCs are permenantly arrested in G0
neurons and RBCs are permenantly arrested in ___
G0
Meiosis: diploid cells of germline give rise to
haploid gametes;
Mitosis:

phases
prophase,
pro-metaphase,
metaphase,
anaphase,
telophase;


Metaphase or Prometaphase are best times to =
observe chromosomes
chiasmata  sites of
Crossing over (in
Prophase I)
meiosis I is
reduction division
(chromo. number is reduced from diploid to haploid

by the pairing of homologs in prophase & by their segregation to different cells at anaphase of meiosis I);
Nucleic Acids: purines

(adenine and guanine) have __ rings
2
pyrimidines (cytosine, thymine, and uracil) have __ ring
1
chargaff’s rules  total purines equals total pyrimidines (allows us to calculate % of any
nitrogen base if given the % of one of them
axis to form a helix (twist every __ bp);
10
-formation of chromosome: starts as
nucleosome

(DNA wrapped around histone
-Topoisomerase I 
relaxes supercoils; single strand break (no energy required)
-Topoisomerase II  can introduce negative supercoiling into
DNA; double strand break (requires ATP)