Disease Categories

Question 1

Cytogenic dis’s affecting sex chromos

Answer 1

Klinefelter synd, Turner synd, hermaphroditism and pseudohermaphroditism

Question 2

Point mutation: nonsense

Answer 2

B-thalasemmia

Question 3

ADD from gain of fct mutation

Answer 3

Huntingtons: rise to Huntingtin (abn protein)

Question 4

Cytogenic dis’s affecting autosomes

Answer 4

Trisomy 21, 18, 13, chromo 22q11.2 deletion synd

Question 5

Codominant

Answer 5

• ABO blood grp

- a1-antitrypsin deficiency

Question 6

Mito dis

Answer 6

Leber hereditary optic neuropathy (LHON)

Question 7

Deletion

Answer 7

CF: lacks aa 508 (phe) on chromo 7

Question 8

Trimucleotide repeats

Answer 8

Huntingtons dis

Fragile X: 100s CCGs in FMR1 gene

Question 9

GSDs

Answer 9

• Hepatic form: Von Gierke dis (T1 glycogenolysis
• Myopathic form: McArdle dis (T5 glycogenolysis), T7 glycotenosis
• Other form: Pompe dis, lack branching enz

Question 10

Mendelian disorders: genetically determined adverse rxns to drugs

Answer 10

-G6PD deficiency

Question 11

other genes that affect expressivity and penetrance

Answer 11

SCA: a-globin effects how much Hb made in the 1st place

Question 12

Complex multigenic disorders

Answer 12

• atherosclerosis
• DM
• HTN
• autoimmune dis

Question 13

Mendelian disorders: defects in structure, fct, quantity fo nonenz proteins

Answer 13

Hemoglobinopathies, thalassemais, osteogenesis imperfecta, hereditary spherocytosis, muscular dystrophies, MFS, EDS

Question 14

X-linked recessive dis

Answer 14

• Nervous: Fragile X synd
• Hunter synd (a type of MPS)
• (Blood: G6PD deficiency)
• (color blindness(

Question 15

ARDs:

Answer 15

• Metabolic: LSD, GSD, (CF, a1-antitrypsin deficiency)
• Skeletal: EDS-kyphoscoliosis type Dermatosparaxis type, alkaptonuria
• MPS (except Hunter synd, which is X-linked recessive)
• (Hemapoietic: SCA, thalasemias)

Question 16

environ that affect expressivity and penetrance

Answer 16

familial hypercholesterolemia: depend on dietary uptake of lipids

Question 17

ADD w variable expressivity

Answer 17

neurofibromatosis type 1

Question 18

Point mutations: nonconservative missense

Answer 18

SCA
FActor V leiden
(just general missense: MFS, contractural arachnodactlyl, Niemann-Pick Type A)

Question 19

LSDs

Answer 19

Tay Sachs
Niemann Pick A and B and C
Gaucher dis
MPS

Question 20

X-linked dominant dis

Answer 20

Fragile X syndrome?

Vitamin D resistant rickets

Question 21

Pliotropism

Answer 21

SCA

Question 22

Mendelian disorders: Enzymatic defects

Answer 22

• build up of substrate: galactosemia, LSD, GSD
• decreased amt of end product:albanism, leish nyhan synd
• failure to deactivate tissue damaging enz: a1-antitrypsin deficiency

Question 23

ADD from deleterious mutation

Answer 23

• if involved in feedback: familial hypercholesterolemia: sense less cholest –> body prod more
• if involved in a greater strucutre: osteogenesis imperfecta bc 1 of 3 collagens in matrix messed up

Question 24

Mendelian disorders: defects in receptors/transport mechanisms

Answer 24

FH

CF

Question 25

Genetic heterogeneity

Answer 25

• childhood blindness
• DM
• MFS (of fibrillin locus)

Question 26

Frameshift mutation

Answer 26

Tay-Sachs: 4bp insertion in hexoaminadase A

Question 27

Dis’s caused by genomic imprinting

Answer 27

prader willi synd, angelman synd

Question 28

Dis’s caused by trinucelotide repeats

Answer 28

fragile x synd, fragile X tremor/ataxia