LECTURE III Flashcards
CHECK ON LEARNING
this is the study of inheritance through the lens of structure and function of chromosomes?
cytogenics
name the purines?
adenine and guanine
name the pyrimidines?
cytosine, thymine, uridine
coiled solenoid (to protect genetic material as they go through mitosis or meiosis (contains proteins and DNA))
chromatin
each turn contains 6 nucleosomes and 1200 nucleotide pairs?
solenoid
DNA wound twice around an octane of histones (2 subunits each of H2A, H2B, H2, H4, plus an unconcerned H1 that anchors the DNA)
so as a result, this structure of interphase chromosome allows more/less access to the sequence for transcription, what is this called?
nucleosome
epigenetics
what form of double stranded DNA is this?
right-handed, 11bp/turn, crystal structure
A form
what form of double stranded DNA is this?
right-handed, 10bp/turn, most common form
B form
what form of double stranded DNA is this?
left-handed, 12 bp/turn. alternating CGCGCG
Z form
heterochromatin has DNA Methylation or DNA Demethylation?
DNA methylation
T/F, heterochromatin has high or low AT content?
high
Euchromatin is histone methylation or histone acetylation?
histone acetylation
Euchromatin or heterochromatin has high GC content?
Euchromatin
this has highly repetitive DNA that protects the chromosomal ends from degradation. Per each division, the tail shortens. Conversely lengthened by telomerase?
telomere
in producing a karyotype, the chemicals used stop mitosis in what phase?
metaphase
this type of technique stains chromosomes with Giemsa stain and labels heterochromatin?
G-banding
stains A-T rich; dark; gene poor areas
this type of technique stains chromosome with acridine orange and labels euchromatin?
R-banding
stain G-C rich; dark; X chromosome abnormalities
this type of technique stains denatured chromosomes with Giemsa stain and labels heterochromatin more specifically?
C-banding
stains the centromeric heterochromatin and chromosomes with large heterochromatin sections
this type of staining uses UV florescent and has the same patterning as G banding microscope?
Q banding: Quinacrine stain
AT-rich heterochromatin
this typing can identify the loss of heterozygosity or translocation
SKY typing
this typing can identify loss of heterozygosity (LOH) or translocation?
FISH typing
what can chromosomal microarray detect?
microdeletions and microduplications
abnormalities of chromosome number
unbalanced rearrangements
excessive homozygosity
mosaicism
de novo terminal deletion of chromosome 15q26.1 is linked to?
congenital diaphragmatic hernia (CDH) as well as congenital malformations and developmental delay
this type of chromosome is a characteristic translocation between chromosome 22 and 9. Rearrangement results in the expression of an aberrant active signaling molecule that is always active and stimulating cel proliferation, specifically a form of leukemia?
The Philadelphia Chromosome
this type of translocation joins a normal, non homologous, acrocentric chromosome, breakage and rejoining occurs, this translocation happens as a result?
robertsonian translocation
name this syndrome:
this is a range of developmental problems including including learning disabilities, cognitive impairment, characteristic physical anomalies. More more affected?
Fragile X syndrome
this type of chromosomal disorder is found within the FMR1 gene. Most people carry some repeats but addition of additional repeats leads to syndrome?
CGG triplet repeat expansion
this type off disease develops chorea, changes in personality, cognitive issues and CAG repeat expansion within the HTT gene?
Huntington disease
