Objectives 2-6

Question 1

abnormal labs and/or clinical diagnosis with ____ dz

kayser-fleischer ring

Answer 1

wilson disease

deep copper scored ring in periphery of cornea

Question 2

abnormal labs and/or clinical diagnosis with ____ dz

black colored urine

Answer 2

alkaptonuria

early onset arthritis

Question 3

abnormal labs and/or clinical diagnosis with ____ dz

episodic hypoglycemia

Answer 3

provoked by fasting

characteristic of MCAD

Question 4

abnormal labs and/or clinical diagnosis with ____ dz

coarse wiry hair

Answer 4

characteristic of Menkes

Question 5

abnormal labs and/or clinical diagnosis with ____ dz

severe mental retardation, despite early intervention, low IQ

Answer 5

galactosemia

Question 6

abnormal labs and/or clinical diagnosis with ____ dz

maple syrup urine

Answer 6

MSUD

Question 7

abnormal labs and/or clinical diagnosis with ____ dz

philadelphia chromosome

Answer 7

chronic myelogenous leukemia (CML) blast crisis

Question 8

abnormal labs and/or clinical diagnosis with ____ dz

tendon xanthomas

Answer 8

fat deposits on hands

familial hypercholesterolemia

Question 9

normal Phe serum levels

Answer 9

approximately 1 mg/dl

Question 10

Phe serum levels in PKU

Answer 10

6-80 mg/dl

Question 11

ethnic group that has a higher incidences of ____ dz

tay sachs

Answer 11

ashkenazi jews

Question 12

ethnic group that has a higher incidences of ____ dz

PKU

why?

Answer 12

northern europeans and yemenite jews

autosomal recessive disorder and these groups tend to mate within themselves

Question 13

ethnic group that has a higher incidences of:

BRCA/BRC2

Answer 13

gene defect is higher in Ashkenazi Jewish women

higher risk of earlier onset of breast cancer

Question 14

multifactorial

Answer 14

additive effects of many genetic and environmental factors

when environmental factors also play a role in development of a trait

Question 15

multifactorial conditions

Answer 15

tend to run in families
risk is generally less than 25-
50% seen in Mendelian conditions

Question 16

multifactorial conditions degree of risk

Answer 16

related to the number of genes they share in common with the affected individuals

increases with degree of severity of the disorder

Question 17

disorders that are considered multifactorial

Answer 17

Alzheimer’s disease
Diabetes Mellitus
obesity

Question 18

Alzheimer’s disease

Answer 18

fatal neurodegenerative disease responsible for 60-70% of progressive cognitive impairment among elderly

Question 19

genetic predisposition issues

Alzheimers

Answer 19

risk of developing AD doubles in those who have affected first degree relative

indicates that genetics are highly involved in AD

Question 20

genes involved in early onset of Alzheimer’s

Answer 20

presenilin 1 (PS1) and presenilin 1 (PS2)

cause early onset forms

Question 21

PS1 and PS2

Answer 21

genes that are involved in early onset AD

code for protein products involve in the cleavage of ABPP

mutations here cause amyloid producing forms of ABP to accumulate in excess and deposit in the brain

Question 22

genes involved in late onset of AD

Answer 22

no known cause and no obvious inheritance pattern

but allelic variation is found in APOE on chromosome 19

Question 23

APOE

Answer 23

gene NOT involved in cleavage of ABPP but instead is associated with clearance of amyloid from the brain `

Question 24

APOE has 3 alleles:

Answer 24

APOE e2
APOE e3
APOE e4

Question 25

majority of AD cases are ____ onset

Answer 25

LATE

Question 26

pathophysiology of AD

Answer 26

progressive dementia and memory loss caused by amyloid plaques

Question 27

constituent of amyloid plaques

Answer 27

peptide AB derived from cleavage of normal ABPP

Question 28

risk percentage for AD

APOE e2

Answer 28

LOWER Ad risk

Question 29

risk percentage for AD

APOE e3

Answer 29

most common from found in general population

plays a NEUTRAL role in AD

Question 30

risk percentage for AD

APOE e4

Answer 30

increases risk of getting AD

Question 31

what does APOE stand for?

Answer 31

apolipoptotein E

found on chromosome 19

Question 32

what does ABPP mean?

Answer 32

amyloid-B precursor protein