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