General (1) Flashcards
What step of the cell cycle is the most error-prone?
anaphase I
chromosomes separate at centromere
At what phase do oocytes pause from formation until ovulation?
prophase I
Where is the polyA tail located?
the 3’ UTR
What is the TATA box?
a promoter sequence upstream of the transcription start site
What is the CAT box?
a region upstream of the TATA box ; important for transcription, normal gene expression
What is the start codon?
AUG
methionine
What are the 3 stop codons?
UAA, UGA, UAG
How many kb are in the mitochondrial genome?
How many genes?
16kb
37 genes
What is the difference between a proband and a consultand?
proband: first affected person who brings an issue to attention
consultand: first person who seeks genetic counseling
What does “sex-limited” mean?
a defect is inherited in an autosomal fashion, but affects only one sex
ex: HBOC
What is a missense mutation?
a mutation leading to a different amino acid
What is a nonsense mutation?
a single base substitution leading to a premature stop codon; yields a shortened and usually nonfunctional protein
What is an example of a dinucleotide mutation hotspot?
CG
methylated Cs can spontaneously deaminate to form T
What percentage of sperm contain a new deleterious mutation?
10%
What are tested in a paternity test?
microsatellites
What is a linkage analysis?
a determination of the distance between 2 genes based on frequency with which they remain together through meiosis
What is the most common chromosome rearrangement?
13q14q Robertsonian translocation