Advanced Human Genetics

Can you name the Advanced Human Genetics?

normal intelligence, obstructive sleep, lordosis, front bossing, midface hypoplasia, short stature
What is the relative rate of reproduction called?
When a single gene produces multiple effects
joint laxity, long limbs, long digits, eye problems, heart problems, tall
abnormal protein interfering with normal protein
symptoms beginning at a younger age in successive generations
What is the incidence of having sex linked condition in males?
What determines whether a mutation survives to a subsequent generation?
True or false, the most common type of Hemophilia mutation is a deletion
What type of disorder is it if: more males are affected, no male to male transmission, all daughters of affected males are carriers
What type of mutation causes Huntington disease?
If all daughters of affected males are affected, what type of disorder is it?
If we see a disorder skip a generation in an autosomal dominant condition, we can guess it is due to:
chorea, random/involuntary movements, psychiatric behavioural problems, sxs appearing after 40, death 5 - 10 years after symptoms
Psuedohypertrophy of calves, progressive weakness of muscles, early death, appears early in childhood
what type of shortening in achondroplasia
hammer toe deformity, stork leg, areflexia, distal extremity weakness and sensory loss, diagnosed through conduction studies
Becker muscular dystrophy is what type of condition?
What type of mutation causes BMD?
A double heterozygote is unaffected. True or False
SCD demonstrate allelic heterogeneity with _______?
A woman and her mother and her grandmother all have had early menopause. What may they have?
Irregular chloride movements is a feature of
BMD and DMD are examples of ______ heterogeneity.
A progressive neuromuscular disorder with proximal weakness, gynecomastia, testicular atrophy, seen in males
What are the two balancing forces causing gradual changes in gene frequencies?
A patient has MCV greater than 3.5%; what do they have?
Equation for probability that a homozygote has received both alleles at a locus from the same ancestral source?
What is the probability that someone will be a carrier if both their parents are carriers?
selective forces operating in both directions is
What is a patient's MCV if they have alpha thalassemia? (< and > signs do not appear, write in words)
What are the three possible results of a multi-gene panel test?
What are the three types of cancer risks? (alphabetically, no commas)
What is a patient's HbA2 % if they have alpha thalassemia?
proportion of genes shared by two related individuals
Why don't you notice a problem in beta chains at birth but do notice them later?
Nomenclature: T switched to C in a coding region at position 535 in a point mutation that did not cause a frameshift
Nomenclature: the protein Cys was changed into Arg at residue 179.
A father has a tremour. His daughter had psychiatric behaviours. His son had large testicles and severe ID. His brother has autism. This is an example of what phenomenon?
What syndrome is described in the previous question?

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