Molecular Genetics Flashcards
Heretability of alcohol
45-65%
Risk of ASD in siblings of children with ASD
50-100 x
Monozygotic concordance of ASD
60-90%
Dizygotic concordance of ASD
30%
Which enzyme is deficient in Niemann Pick Disease?
Sphingomyelinase
Which enzyme is deficient in Lesch Nyhan syndrome?
Hypoxanthine phosphoribosyltransferase
By which process can genes be deactivated?
Methylation
Facial features in Di George syndrom
Microcephaly
Cleft palate
Small mouth
Long face
Prominent tubular nose
Hypoplasia of adenoids
Narrow palpebral fissure
Other (non facial) features in Di George syndrome
Hypospadias
Long, thin hands
Cardiac abnormalities
LD
Schizophrenia
Blunted affect
Which blot technique can be used to visualise restriction fragment length polymorphisms?
Southern blotting
Following synthesis, proteins are stored temporarily in
Golgi complex
Trisomy X results in how many Barr bodies
2
Pair of alleles from each parent separate, and only one from each passes to offspring
Law of segregation
What is a premutant carrier of Fragile X expansion?
Increase CGG repeats in FMR1 locus - increased risk of intention tremor and ataxia
How many autosomes in a human somatic cell
44
Complete meiosis of one cell results in how many daughter cells
4
Interviewing all 1st degree relatives of affected patients = what kind of study
Family Study
Where is progranulin mRNA widely expressed?
- rapidly cycling epithelial cells
- immune system
- cerebellar purkinje cells
Which condition results from an abnormality in the locus encoding progranulin?
Primary progressive aphasia
Which type of Downs syndrome can be equally likely inherited from either parent
Robertsonian translocation
Which cell cycle phase does a neuron spend most of it’s time
G0
Nondisjunction occurring after fertilisation in any cell results in what
Mosaicism
What type of genetic study uses cases and controls, or families with internal controls?
Association study
Synthesis of RNA from DNA template is done by…
RNA Polymerase
