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MCP Unit 7 > Introduction to Medical Genetics > Flashcards

Introduction to Medical Genetics Flashcards

1
Q

medical genetics

A

the study of human genetic variation of medical significance

-vs human-study of heredity in man

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2
Q

subunits of medical genetics

A
  • clinical genetics-diagnosis
  • genetic counseling- info
  • molecular genetics, biochemical, cytogenetics-lab
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3
Q

mutation

A
  • permanent, heritable change in the sequence of genomic DNA
  • can occur at either the molecular or cytogenetic level
  • may give rise to new alleles
  • important mechanism of population variation
  • neutral mutation-blue eyes
  • pos-sickle cell trait
  • neg-sickle cell disease
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4
Q

patterns of inheritance

A
  • dominant vs recessive

- autosomal vs x linked

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5
Q

inherited gene complement

A
  • mutations may be transmitted from one or both parents

- typically called the constitutional genome

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6
Q

acquired gene complement

A

-subset of cells in an individual that arose by clonal propagation from a single mutation in one cell

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7
Q

syndrome

A
  • set of characteristics which occur together and are assumed to have a common basis
  • not all characters occur in all affected individuals
  • range of variability within a population
  • VCFS-250 features, no single person has all of them
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8
Q

biochemical genetics

A

-subspecialty of genetics that deals with the diagnosis, treatment and research of inborn errors of metabolism

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9
Q

inborn errors of met

A
  • genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block
  • accumulation of substrate
  • deficiency of products
  • first reported in 1908-alcaptonuria, cystonuria, pentosuria, albinism
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10
Q

alkaptonuria

A

-accumulation of homogentisic acid in the blood, damage to cartilage, heart, kidney

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11
Q

pathways

A
  • depending on what enzyme is gone, substrates will accumulate
  • different color kitties-tyrosine oxidase leads to white kitty
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12
Q

enzyme defects

A
  • secondary pathways may show increases in activity if primary can’t work
  • salvage pathways
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13
Q

shared enzymes

A

-both products decrease and both precursors accumulate

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14
Q

inborn errors 2

A
  • single enzyme defect
  • recessive
  • many recognized disorders
  • challenge to detect the particular substance and pathway involved
  • use of knowledge and biochem of genetics to make diagnosis
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15
Q

general clinical features of metabolic disorders

A
  • poor growth
  • mental retardation
  • problems in general metabolism
  • neurological problems
  • patient evaluation- clinical picture- onset of MR over time
  • family history- other affected siblings, unexplained infant deaths
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16
Q

biochemical genetic diseases

A
  • aminoacidopathies
  • organic acidemias
  • FA oxidation disorders
  • urea cycle disorders
  • carb metabolism disorders
  • glycogen storage disease
  • lysosomal storage diseases
17
Q

hyperphenylalaninemias

A
  • PKU, variant PKU
  • defects in BH4 metabolism
  • phenylalanine hydroxylase
18
Q

PKU

A
  • phenylalanine hydroxylase to tyrosine
  • build up and phenylpyruvic acid
  • AR
  • 1/ 10,000 live births
  • treat by diet modification- early in life and in pregnancy
  • low Phe diet
19
Q

variant PKU and non PKU-hyperphenylalaninemia

A
  • non PKU- 10 fold increase in Phe levels, less damaging, may be benign, may not require diet
  • variant PKU- b/n extremes- requires a diet but not as restrictive
  • clinical heterogeneity-different phenotypes from mutation of a single gene
20
Q

BH4

A
  • used with phenylalanine hydroxylase
  • if deficient, can have PKU
  • defect of BH4 metabolism, not the PAH
  • locus heterogeneity- mutations in different genes leading to same disease, dont completely respond to diet
  • also cofactor for other reactions-deficit of dopamine and serotonin
  • give BH4 and nts
21
Q

lysosomal storage diseases

A
  • recessive
  • mutation of a lysosomal hydrolytic enzyme leads to failure of degradation and the accumulation of macromolecules in lysosomes
  • over 50 known
  • clinically heterogeneous
  • common presentation: progressive degeneration
22
Q

lysosomal storage diseases 2

A
  • cystinosis
  • fabry
  • gaucher
  • i cell disease
  • krabbe
  • metachromatic leukodystrophy
  • mucopolysaccharidosis
  • niemann pick
  • pompe
  • sulfatase def
  • tay sachs
23
Q

GM2 gangliosidoses

A
  • three different genes produce 3 different proteins that function together
  • mutation in any one can result in abnormality
24
Q

tay sachs

A
  • AR
  • rare except for ashkenazi jews
  • onset 3-6 months, death 2-4 years
  • deficiency of hexosaminidase A
  • inability to degrade GM2 ganglioside
  • no known trt
  • carrier rate 1/27
  • accumulation in brain
  • cherry red macula
25
Q

mucopolysaccharideoses

A
  • group of heterogeneous disorders
  • absence of specific enzyme involved in degradation of glycosaminoglycans
  • accumulation of macromolecules in the lysosomes
  • pernament progressive damage
  • short stature, delay, skeletal abnormalities and joint stiffness, thickened skin, heart, liver or spleen damage
26
Q

hunter

A

-iduronate sulfatase (enzyme)
-build up of dermatan sulfate and heparan sulfate
X linked recessive

27
Q

hurler

A
  • a-L-iduronidase

- dermatan and heparan sulfate

28
Q

Scheie

A
  • a-L-iduronidase

- dermatan and heparan sulfate

29
Q

sanfilippo

A
  • 4 enzymes

- heparan sulfate

30
Q

morquio a

A
  • gal-6-sulfatase

- keratan sulfate

31
Q

morquio b

A
  • b galactosidase

- keratan sulfate

32
Q

maroteaux-lamy

A
  • arysulfatase B

- dermatan sulfate

33
Q

sly

A
  • b glucuronidase

- dermatan and heparan sulfate

34
Q

treatment for mucopolysaccharidoses

A
  • bone marrow transplantation
  • enzyme replacement therapy
  • gene therapy
35
Q

CT disorders: collagen

A
  • procollagen/collagen
  • collagen fibril
  • mineralization in bone
36
Q

OI

A
  • mutations in type 1 collagen with either reduced production or defective collagen
  • 4 classes
  • AD
  • brittle bones and skeletal deformities
  • reduced production is mildest class, produced in half normal quantity
  • type II is perinatal lethal
  • type IV is mild to moderate bone deformity and fracturing, class III is intermediate
37
Q

ehler-danlos

A
  • error in post translational modification of collagen
  • multiple subtypes
  • AD, AR, x linked recessive
  • skin fragility
  • joint hypermobility
  • skin hyperextensibility
  • COL5A or COL3A
  • shunned/freaks/circus
38
Q

Marfan

A
  • CT- fibrillin gene
  • skeleton, eyes, heart
  • tall and thin with long fingers
  • joint laxity and scoliosis
  • lung-pneumothorax
  • dislocation of lens, cataracts, glaucoma, retinal detachment
  • mitral valve prolapse, dilatation and dissection of aorta (athletes)

MCP Unit 7 (14 decks)

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