Objectives 2-6 Flashcards
abnormal labs and/or clinical diagnosis with ____ dz
kayser-fleischer ring
wilson disease
deep copper scored ring in periphery of cornea
abnormal labs and/or clinical diagnosis with ____ dz
black colored urine
alkaptonuria
early onset arthritis
abnormal labs and/or clinical diagnosis with ____ dz
episodic hypoglycemia
provoked by fasting
characteristic of MCAD
abnormal labs and/or clinical diagnosis with ____ dz
coarse wiry hair
characteristic of Menkes
abnormal labs and/or clinical diagnosis with ____ dz
severe mental retardation, despite early intervention, low IQ
galactosemia
abnormal labs and/or clinical diagnosis with ____ dz
maple syrup urine
MSUD
abnormal labs and/or clinical diagnosis with ____ dz
philadelphia chromosome
chronic myelogenous leukemia (CML) blast crisis
abnormal labs and/or clinical diagnosis with ____ dz
tendon xanthomas
fat deposits on hands
familial hypercholesterolemia
normal Phe serum levels
approximately 1 mg/dl
Phe serum levels in PKU
6-80 mg/dl
ethnic group that has a higher incidences of ____ dz
tay sachs
ashkenazi jews
ethnic group that has a higher incidences of ____ dz
PKU
why?
northern europeans and yemenite jews
autosomal recessive disorder and these groups tend to mate within themselves
ethnic group that has a higher incidences of:
BRCA/BRC2
gene defect is higher in Ashkenazi Jewish women
higher risk of earlier onset of breast cancer
multifactorial
additive effects of many genetic and environmental factors
when environmental factors also play a role in development of a trait
multifactorial conditions
tend to run in families
risk is generally less than 25-
50% seen in Mendelian conditions
multifactorial conditions degree of risk
related to the number of genes they share in common with the affected individuals
increases with degree of severity of the disorder
disorders that are considered multifactorial
Alzheimer’s disease
Diabetes Mellitus
obesity
Alzheimer’s disease
fatal neurodegenerative disease responsible for 60-70% of progressive cognitive impairment among elderly
genetic predisposition issues
Alzheimers
risk of developing AD doubles in those who have affected first degree relative
indicates that genetics are highly involved in AD
genes involved in early onset of Alzheimer’s
presenilin 1 (PS1) and presenilin 1 (PS2)
cause early onset forms
PS1 and PS2
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
genes involved in late onset of AD
no known cause and no obvious inheritance pattern
but allelic variation is found in APOE on chromosome 19
APOE
gene NOT involved in cleavage of ABPP but instead is associated with clearance of amyloid from the brain `
APOE has 3 alleles:
APOE e2
APOE e3
APOE e4
majority of AD cases are ____ onset
LATE
pathophysiology of AD
progressive dementia and memory loss caused by amyloid plaques
constituent of amyloid plaques
peptide AB derived from cleavage of normal ABPP
risk percentage for AD
APOE e2
LOWER Ad risk
risk percentage for AD
APOE e3
most common from found in general population
plays a NEUTRAL role in AD
risk percentage for AD
APOE e4
increases risk of getting AD
what does APOE stand for?
apolipoptotein E
found on chromosome 19
what does ABPP mean?
amyloid-B precursor protein
