Chromosomes/Genes/ GeneticMarkers

Question 1

Marfan - MoI, gene, Chromosome

Answer 1

FBN1 gene mutation on chromosome 15; AD

Question 2

ex of missense mutation

Answer 2

Sickle Cell (glutamic acid w/ valine)

Becker?

Question 3

Ex of frameshift mutation

Answer 3

Duchenne muscular dystrophy, Tay-Sachs disease.

Question 4

Splice cite mutation

Answer 4

rare causes of cancers, dementia, epilepsy, some types of β-thalassemia.

Question 5

Issue with Nucleotide excision repair

Answer 5

Defective in xeroderma pigmentosum (inability to repair DNA pyrimidine dimers caused by UV exposure).

Question 6

Mismatch repair

Answer 6

Lynch syndrome; serrated polyps

Question 7

issue with Nonhomologous end joining

Answer 7

ataxia-telangiectasia.

Question 8

Homologous recombination issue

Answer 8

defective in breast/ovarian cancers with BRCA1 mutation and in Fanconi anemia.

Question 9

mutated PEX genes - Dz, MoI

Answer 9

Zellweger syndrome—autosomal recessive disorder of peroxisome biogenesis. Hypotonia, seizures, hepatomegaly, early death.

Question 10

mutation in ABCD1 gene - dz, MoI

Answer 10

Adrenoleukodystrophy—X-linked recessive disorder of β-oxidation due to mutation in ABCD1 gene –> VLCFA buildup in adrenal glands, white (leuko) matter of brain, testes. Progressive disease that can lead to adrenal gland crisis, coma, and death.

Question 11

COL1A1 and COL1A2

Answer 11

Osteogenesis Imperfecta

Question 12

COL5A1, COL5A2

Answer 12

Classical EDS

Question 13

type III procollagen (eg, COL3A1

Answer 13

EDS vascular type

Question 14

ATP7A - Dz, MoI

Answer 14

Menke’s XLR

Question 15

ATP7B, Dz, MoI, Chr

Answer 15

Wilson’s - AR, Chr 13

Question 16

ex of Pleiotropy

Answer 16

One gene contributes to multiple phenotypic effects.
Untreated phenylketonuria (PKU) manifests with light skin, intellectual disability, and musty body odor.

Homocyteinuria, any syndrome

Question 17

due to Gs-protein activating mutation.

Answer 17

McCune-Albright syndrome—due to Gs-protein activating mutation.

Presents with unilateral café-au-lait spots A with ragged edges, polyostotic fibrous dysplasia (bone is replaced by collagen and fibroblasts), and at least one endocrinopathy (eg, precocious puberty).

Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism.

Question 18

Ex of locus heterogeneity

Answer 18

Mutations at different loci can produce a similar phenotype.
Albinism.

Question 19

Allelic heterogeneity

Answer 19

Different mutations in the same locus produce the same phenotype.
β-thalassemia.

Question 20

Associated with a mutation or deletion of chromosome 15 of paternal origin.

Answer 20

Prader Willi

Question 21

Associated with mutation or deletion of the UBE3A gene on chromosome 15.

Answer 21

Angelman

Question 22

XLD diseases

Answer 22

Hypophosphatemic rickets, fragile X syndrome, Alport syndrome, focal dermal hypoplasia, Rett syndrome

Question 23

CFTR - deletion? chromosome?

Answer 23

deletion of Phe 508, chr 7

Question 24

DMD gene - dz?

Answer 24

dystrophin gene, Duchenne & Becker

Question 25

DMPK gene - what mutation,dz

Answer 25

Autosomal dominant. CTG trinucleotide repeat expansion in the DMPK gene –> abnormal expression of myotonin protein kinase

Myotonic type 1 dystrophy

Question 26

MECP2 - which chr, dz?

Answer 26

Rett syndrome, X chr

sx/ cognitive difficulties, ataxia, seizures, growth failure, hand wringing

Methyl CpG binding protein 2 = MECP2, needed for nerve cell function

Question 27

FMR1 gene - mut’n? dz? MoI?

Answer 27

Fragile X syndrome

X-linked dominant inheritance. Trinucleotide repeat in FMR1 gene –> hypermethylation –> dec expression.

Question 28

Chr 3

Answer 28

von Hippel-Lindau disease, renal cell carcinoma

Question 29

chr 4

Answer 29

ADPKD (PKD2), achondroplasia, Huntington disease

Question 30

chr 5

Answer 30

Cri-du-chat syndrome, familial adenomatous polyposis

Question 31

chr 6

Answer 31

Hemochromatosis (HFE)

Question 32

chr 7

Answer 32

Williams syndrome, cystic fibrosis

Question 33

chr 9

Answer 33

Friedreich ataxia, tuberous sclerosis (TSC1)

Question 34

chr 11

Answer 34

W11ms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia), MEN1 (MEN11)

Mantle cell (11:14) Marginal cell (11:18)

Question 35

chr 13

Answer 35

Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2

Question 36

chr 15

Answer 36

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

Tay Sachs (Hexoaminidase A)

Question 37

chr 16

Answer 37

ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), tuberous sclerosis (TSC2

Question 38

chr 17

Answer 38

Neurofibromatosis type 1, BRCA1, TP53

Question 39

chr 18

Answer 39

Edwards syndrome

Question 40

chr 21

Answer 40

Down syndrome

Question 41

chr 22

Answer 41

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

Question 42

Congenital microdeletion of long arm of chromosome 7

Answer 42

Williams syndrome

distinctive “elfin” facies, intellectual disability, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems (eg, supravalvular aortic stenosis, renal artery stenosis). Think Will Ferrell in Elf.

Question 43

genetic deficiency of FOXP3

Answer 43

IPEX - IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome— genetic deficiency of FOXP3

Characterized by enteropathy, endocrinopathy, nail dystrophy, dermatitis, and/or other autoimmune dermatologic conditions. Associated with diabetes in male infant

Question 44

PIGA gene

Answer 44

Paroxysmal nocturnal hemoglobinuria

preventing the formation of glycosylphosphatidylinositol (GPI) anchors for complement inhibitors, such as decay-acclerating factor (DAF/CD55) and membrane inhibitor of reactive lysis (MIRL/CD59)

Question 45

Defect in BTK

Answer 45

X-linked (Bruton) agammaglobulinemia

Question 46

22q11 microdeletion

Answer 46

DeGeorge syndrome

Question 47

STAT3 mutation

Answer 47

Autosomal dominant hyper-IgE syndrome (Job syndrome)
Deficiency of Th17 cells due to STAT3 mutation

Question 48

defects in AIRE.

Answer 48

Chronic mucocutaneous candidiasis

Question 49

failure to detect DNA damage

Answer 49

Ataxia-telangiectasia
Defects in ATM gene

Question 50

Mutation in WAS gene;

Answer 50

Wiskott Aldrich - leukocytes and platelets unable to reorganize actin cytoskeleton –> defective antigen presentation;

Question 51

lysosomal trafficking regulator gene (LYST)

Answer 51

Chédiak-Higashi syndrome

PLAIN:
Progressive neurodegeneration,
Lymphohistiocytosis,
Albinism (partial),
recurrent pyogenic Infections,
peripheral Neuropathy.

Giant granules in granulocytes and platelets. Pancytopenia. Mild coagulation defects.

Question 52

Genes for the following 5 bacterial toxins are
encoded in a lysogenic phage

Answer 52

(ABCD’S):

Group A strep erythrogenic toxin, Botulinum toxin,
Cholera toxin, Diphtheria toxin, Shiga toxin.

Question 53

These bacterial toxins inactivate 60S ribosome by removing adenine from
rRNA

Answer 53

Shigella,

EHEC (shiga like toxin)

Question 54

MRSA (methicillin-resistant S aureus)—
important cause of serious nosocomial and
community-acquired infections; resistance
due to altered penicillin-binding protein.
______ gene from staphylococcal chromosomal
cassette involved in penicillin resistance.

Answer 54

MecA

Question 55

All DNA viruses have dsDNA genomes except
_______ (ssDNA).

Answer 55

Parvo

Question 56

All RNA viruses have ssRNA genomes except
_________ (dsRNA).

Answer 56

Reoviruses

Reo - like Duo (2)

Question 57

Bacterial catalase peroxidase
(encoded by ____) needed to
convert INH to active metabolite.

Answer 57

KatG

Question 58

Gene affected in familial dilated cardiomyopathy

what type of mutation?

Answer 58

TTN, affects titin protein, connects myosin heavy chain with Z disc

nonsense mutation

QID13600

Question 59

Gene affected in familial bicuspid aortic valve

Answer 59

NOTCH1

Question 60

Due to transthyretin gene mutation

Answer 60

Familial amyloid polyneuropathies