Diseases

Question 1

Achondroplasia (Mutation)

Answer 1

FGFR3

Gly380Arg -> Gain Of Function

Question 2

Nonsyndromic Deafness (Mut)

Answer 2

GJB2

Loss of Function

Question 3

Retinitis Pigmentosum with Deafness

Answer 3

Usher Synd (AR)

Question 4

Thyroid Goiter with Deafness

Answer 4

Pendred Synd (AR)

Question 5

Sudden Death, Arrhythmia with Deafness

Answer 5

Jervell & Lange-Nielson Synd (AR)

Question 6

White Forlock with Deafness

Answer 6

Waardenburg Synd (AD)

Question 7

8th Nerve Schwannomas with Deafness

Answer 7

Neurofibromitosis Type 8

Question 8

Nonsyndromic Deafness, congenital

Answer 8

Auto Recessive

Question 9

Nonsyndromic Deafness, progressive

Answer 9

Auto Dominant

Question 10

Fragile X Synd

Answer 10

FMR1 Gene, CGG repeat

X-linked, Mild retardation

Question 11

Alpha 1 - Antitrypsin Therapy

Answer 11

Protein replacement, Replace extracellular protein

Alpha 1 AT is Auto Recessive

Question 12

Hemophilia therapy

Answer 12

Protein replacement, Factor VIII, Extracellular protein

Question 13

Gaucher Disease/Fabry Disease Therapy

Answer 13

Target intracellular protein

Question 14

Pyridoxine-responsive homocystinuria Therapy

Answer 14

Cofactor Administration

Question 15

Biotinidase Defeciency

Answer 15

Cofactor administration

Question 16

Enzyme activity (test)

Answer 16

tests for metabolic diseases, Gaucher’s

Question 17

Biochemical (amino acids) test

Answer 17

tests for PKU

Question 18

Lipid panel test

Answer 18

familial hypercholesterolemia

Question 19

X-ray

Answer 19

= Achondroplasia

Question 20

Sweat Chloride test

Answer 20

= cystic fibrosis

Question 21

Protein electrophoresis test

Answer 21

sickle cell anemia

Question 22

Ultrasound test

Answer 22

polycystic kidney disease, hypertropic cardiomyopathy

Question 23

Klinefelter Synd

Answer 23

47, XXY..
Tall male (long limb with narrow shoulder and chest)
Infertile (hypogonadism, small genetilia)
Learning dificulties, may have poor psychosocial adjustment

Question 24

XYY Synd

Answer 24

Tall Male, Normal sexual development

Normal inmteligence, Frequent Bahavioral issues

Question 25

Trisomy

Answer 25

47, XXX Female, Usually tall. Normal Sex development, Learning Difficulties Occasional behavioral issues

Question 26

Turner Synd

Answer 26

45, XO, Short Female, Gonadal Dysgenesis, webbed neck, Low posterior hairline, Broad chest with widely spaced nipples, High frequency of cardio and renal issues. Edema of dorsal hands and feet in Newborns. infertile, Slightly reduced inteligence

Question 27

DAX1

Answer 27

Excess of DAX1 (from duplication) can suppress normal male-determining function of SRY, leading to ovarian development.

Question 28

SOX9

Answer 28

Deletion of SOX9 the testis fail to form. and the ovarian pathway is the default

Question 29

G6PD Deficiency (Avoid)

Answer 29

Anti-malarial drugs

Question 30

Acute intermittent porphyria (avoid)

Answer 30

barbiturates

Question 31

PKU (diet)

Answer 31

reduce phenylanaline

Question 32

Glactosemia

Answer 32

Reduce glactose

Question 33

Congenital Hypothyroidism (replacement)

Answer 33

Thyroxine

Question 34

Biotinidase (replacement

Answer 34

Biotin

Question 35

Retroviral Gene therapy

Answer 35

Use RNA virus, ADVANTAGE: integrate into cell genome, Minimal host immune rxn. DISADVANTAGES: Insert size limited to 7-8kb. Infect only dividing cells. Germ line insertion = BAD Only one that can be passed to Daughter cells

Question 36

Adenoviral

Answer 36

DNA virus, ADVANTAGE: Wide variety of cell types con be infected, Insert size 35-36kb, Stable and easy to get high titers DISADVANTAGE: Does not integrate into cell genome, Expression can be transient, Some risk of malignant formation. Immune rxn can be severe

Question 37

Non-viral

Answer 37

Liposome, Direct DNA ADVANTAGE: Inster size can be very large, Minimal host cell immune response, Could deliver mini-chromosomes. DISADVANTAGE: Low effeciency, Transient expression

Question 38

Chromosome Analysis (Good, bad, ugly)

Answer 38

YES: Aneuploidy (Abnormal Chr number), Deletions, Duplications and Insertions of moderate to large size 3500kb-3Mb NO: Single Nucleotide Deletions. Point Mutation, Small Deletion. Balanced rearangements USE: Downs Synd,

Question 39

FISH (good, bad, ugly)

Answer 39

YES: Recognize microdeletion synd, Chromosome rearrangements, Gene copy numbers NO: Rearangements and deletions that are not specifically tested for, You must know what to look for. POint mutation and small deletions do not work USE: Cri-du-chat, Smith-Magenis, DiGeorge (22qdel), Williams syndrome, Wolf-Hirschhorn, Prader-Willi syndrome, Angelman syndrome

Question 40

Microarray Analysis (Good,bad, Ugly) Chromosomal Micro Array

Answer 40

YES: Compare to Control, Look at whole genome. Good for aneuploidy, deletions and duplicaitions, and unbalanced translocations. NO: Deletions and duplications below the resolution of the CMA,

Question 41

DNA sequencing (good, bad, ugly)

Answer 41

YES: Mutations in Known genes (Known or novel mutations) small deletions or insertions (specific sequence) NO: Very specific, only part of a gene. Clinical sensitivity is often below 100%. Not good for large deletions, mutatins, duplications, etc

Question 42

Paternal Age effect

Answer 42

Achondroplasia, Hemophilia B, Neurofibromitosis

Question 43

maternal Age effect

Answer 43

Trisomy 21