Genetics 3 Flashcards
Duchenne and Becker Muscular Dystrophy are both caused by mutations in
n the dystrophin gene (allelic heterogeneity)
epigenetic mutations are transmitted in somatic cells but reversible in
gametogenesis
Phenotypic expression for both Mendelian and non-Mendelian disorders will always be
dependent on the interaction between the genes involved and the environment
In a GWAS, linkage disequilibrium as defined above means that knowing one SNP can allow you to cover up to
20k basepairs
allows even division of cells during mitosis
cleavage furrow
carriers of this chromosome abnormality are not at increased risk for having abnormal children
paracentric inversions
are duplications generally more severe than deletions
no
majority of miscarriages are due to what anomoly
chromosomal disorders
In turner syndrome, there are no
barr bodies
imprinting disorders are ____ compared with AR conditions
rare
what causes thymidine dimers?
UV light
must all eukaryotic genes be spliced?
no
what at the branch point within the intron attacks the 5’ end of the intron to form lariat
adenine neucleotide
ribosomes are encoded on the
p arm of acrocentric chromosome
diagnose microdeletions like Angelman, PGD, rapid prenatal diagnosis of sex, Down syndrom, and amplification of cancer genes
FISH
SINEs and LINEs, repetitive elements
what genomes are mostly composed of
both due to mutations of the 16th amino acidd of beta globulin
HbS and HbC
patients with beta thalassemia have no symptoms at birth because
they have mostly fetal hemoglobin!
carriers for beta thalassemia have increased percentage of HbA2 because
delta globin replaces beta globin
are inborn errors of mitochondrial respiratory chain always maternally inherited?
No. (de novo?)
Does ubiquination of MPF mediate cell cycle progression?
No.
Does ubiquination and degradation of Cdks regulate them?
No.
DNA fingerprints capitalize on variability in
number of tandem repeats in noncoding DNA
motor mediated sliding of polar Mts away from eachother
drives elogation of spindle apparatus
RNA polymerase II involved in
splicing of primary transcripts
peptidyl tranferase involved in
elogation reaction in protein synthesis
How many VNTRs to determine paternity?
ten to sixteen
what is used to separate VNTRs in paternity tests?
gel electrophoresis
WhichAPOE alleles would lead most likely to Alzheimers?
2 E4 alleles
where do oocysts arrest following ovulation?
Metaphase II
someforms of MODY
don’t require insulin
replicate during interphase, act as MT organizing center, DON’T attach to actin filaments to make mitotic spindle
centrisomes
have little histone content, highly condensed DNA
mature sperm
is ability to treat the disease a criteria for carrier screening?
No.
increase sensitivity means increased false
positives
in familial hypercholesterolia, the defect is in
hepatocytes
PKU, MODY, OI exhibit
locus heterogeneity (CF does not)
CpG islands allow binding of
MBPs
do mutations/chromosome abnormalities that effect imprinting ever upregulate gene expression?
No.
