1. Genetics Flashcards
order of PCR
94* denature
55% annealing
72* nucleotide extension w/polymerase
Mitotic stages order
IPM ATC
Interphase Prophase Metaphase Anaphase Telophase cytokinesis
Colchine is used for what
stop cell division during metaphase
see chromosomes
Alphoid DNA is a type of what?
Satellite DNA
Purpose of alphoid DNA
assembly of DNA centromere
Interspersed repeats are what?
Repeats scattered around the genome
In allelic heterogenity, what type of phenotypes are present?
multiple
In locus heterogeneity what type of phenotype are present
one phenotype
If the point mutation is a conservative missense, what does this mean for AA substitution
AA swap in same group
A frameshift mutation leads to insertion or deletion of nucleotides …
not divisible by 3
Name 3 prenatal diagnostic tests
Amniocentesis
Chorionic villus sampling
non invase prental diagnosis (NIPD)
Autosomal dominant inheritance affects what (3)
Structural proteins
Receptors
Transcription factors
Penetrance …
Proportion of individuals carrying an allele that express a phenotype
Anticipation …
Symptoms of genetic disease become more apparent when passed from generation to generation
Lyonisation…
random inactivation of x chromosomes = Barr body
What is key in haemophillia in regards to male transmission
there is NO MALE - MALE transmission
Most common type of autopsy?
Coroners
Reduction in number of blood cells
Cytopenia
Syndrome with dislocation of lens - what type of inheritance is it?
Autosomal dominant Marfan Syndrome
Bleeding in joints symptom –> Disease
Haemophillia
A unit of chromatin of about 200bp of DNA wound around a histone core
Nucleosome
evolutionary remnant of DNA sequence that resembles a gene elsewhere in the genome but has mutation that appear to render it inactive
Pseudogene
mature mRNA gene
Exon
consanguinity
what does it increase risk of
Related members
Increases risk of autosomal recessive disease
malignant epithelial tumour
carcinoma
mode of transmission that mothers only transmit
mitochondrial
type of death that must be reported to coroner
Unnatural
Leukaemia causing chromosomal rearrangement
Philadelphia
suffix denoting dilatation
ectasis
vertical inheritance is typically what type of autosomal inheritance
dominant
whats our karyotype
46 chromosomes
23 pairs
22 autosomal
1 pair of sex
shape of mitochondrial genome
circular
What kind of inheritance is seen between father to son
Autosomal dominant
is a balanced reciprocal translocation seen in normal phenotypes?
yes
telomerase is seen as what hallmark in cancer cells?
immortality
