Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
20 Cards in this Set
- Front
- Back
- 3rd side (hint)
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)
|
|