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MOD 1- Lauren > chapter 5 > Flashcards

chapter 5 Flashcards

1
Q

Hereditary anemias (thalassemias)

A
  • point mutations or deletions

- -mutation effects amount of globin chains synthesized

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2
Q

cystic fibrosis mutation

A

-3 base mutation= protein that lack phenylalanine

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3
Q

what chromosome does CF mutation occur on?

A

-CFTR gene on chromosome 7q31.2

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4
Q

fragile X mutation

A

-tandem repeats of sequence CGG within familial mental retardation 1 (FMR1) gene

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5
Q

Tay-Sachs mutation

A
  • 4 base insertion in hexosaminidase A gene leads to frameshift
  • GM2 gangliosidase (cant catabolize) : hexosaminidase
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6
Q

what chromosome does Tay-Sachs mutation occur on ?

A

15

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7
Q

what is hallmark of Tay-Sachs?

A

-cherry red spot in macula

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8
Q

ABO blood type mutation

A

-single base deletion at ABO (glycosyltransferase locus

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9
Q

sickle cell anemia mutation

A
  • defects in structure of globin molecule

- point mutation: valine replaces glutamic acid

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10
Q

Familial hypercholesterolemia mutation

A
  • loss of LDL receptors
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11
Q

Osteogensis imperfecta

A

-reduction in collagen (spectrin) (RBC)

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12
Q

Huntingtons disease mutation

A
  • gain of function
  • trinucleotide repeat
  • abnormal protein (huntington)
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13
Q

what enzyme do people with Phenylketonuria (PKU) lack?

A

-lack phenylalaine hydroxylase (PAH)

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14
Q

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

A

-predisposes to RBC hemolysis in patients receiving certain types of drugs

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15
Q

Vitamin D-resistant rickets inheritance

A

(X linked dominant)

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16
Q

what enzyme do Galactosemia patients lack?

A

-deficiency of glactose-1-phosphate uridyltransferse

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17
Q

what enzyme do ppl with albinism lack?

A

tyrosinase

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18
Q

what is the deficiency in Lesch-Nyan syndrome?

A
  • deficiency of end product which is a feedback inhibitor or early rxns
  • results in overproduction of intermediate products (toxic)
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19
Q

Alpha1-antitrypsin deficiency

A

unable to inactivate neutrophil elastase in lungs

-destruction of elastin in wall of lung alveoli leading to pulmonary emphysema

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20
Q

what is the defect in marfan syndrome?

A

fibrillin-1

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21
Q

what chromosome does marfan syndrome occur on?

A

-FBN 1 Chr 15q.21.1

FBN 2 chr 5q23.31 less common

22
Q

what is main COD of marfan?

A

aortic dissection -hemorrhage through aortic wall

23
Q

what is the defect in ehlers danlos?

A

-defect in synthesis of fibrillar collagen

24
Q

what is the deficiency in Niemann-picks disease

A
  • lyosomal storage disease

- -lysosomal accumulation of sphingomyelin due to inherited def of sphingomyelinase

25
Q

what chromosome does Niemann picks disease occur on?

A
  • chr 11p15.4

- preferentially expressed on maternal chromosome

26
Q

hallmarks of Niemann picks?

A
  • zebra bodies
  • foamy cells
  • massive splenomagely
27
Q

what is the deficiency in Gaucher

A
  • lysosomal storage disease
  • -glucocerebrosidase mutation
  • accum. Of glucocerebroside in phagocytes
28
Q

what is hallmark of Gaucher?

A
  • bleeding issues
  • trouble fighting infections
  • due to destruction of bone marrow (filling up with gaucher cells)
  • crumpled tissue paper cytoplasm
29
Q

Hurler syndrome deficeincy

A
  • alpha-L-iduronidase

- -increase mucopolysaccharides

30
Q

Von Gierke Type 1 deficiency

A

-gluocse-6-phosphatase def

31
Q

hallmarks of Von Gierke Type 1

A
  • hepatic enlargement

- hypoglycemia

32
Q

McArdle (type v- myopathic) def

A

-muscle phosphorylase def

33
Q

pompe disease deficiency

A
  • def of lysosomal glucosidase (acid maltase)= lysosomal storage of glycogen in all organs
  • lack of branching enzyme
34
Q

hallmark of pompe disease

A
  • cardiomegaly
  • glycogen filled myocardial cells
  • -CHF
35
Q

Trisomy 21 hallmark

A
  • ventral septal defect, and atrial septal defect

- simian crease

36
Q

Trisomy 21 increased risks

A
  • increased risk of acute leukemia (age 20)

- develop changes characteristic of Alzheimer disease at younger age (50yrs old )

37
Q

Trisomy 18 hallmarks

A
  • usually die by 18 months
  • overlapping fingers
  • rocker bottom feet
  • micrognathia
  • low set ears
  • renal malformations*
38
Q

Trisomy 13 hallmarks

A
  • cleft lip and palate
  • Polydactyly
  • microphthalmia
  • umbilical hernia, may be gastroschisis
39
Q

what chromosome is deleted in DiGeorge

A

-chromosome 22 deletion

40
Q

what are hallmarks of DeGeorge?

A

“CATCH 22”

  • cardiac
  • abnormal facies
  • thymic aplasia
  • cleft palate hypocalcemia/hypoparathyroidism
  • *Fungal and viral infections not bacterial
41
Q

what chromosome is deleted in Velocardiofacial syndrome

A

22

42
Q

what are halmarks of Velocardiofacial syndrome

A

-facial dysmorphism (prominent nose, retrognathia), cleft palate, cardiovascular anomalies, learning disabilities

43
Q

Klinefelter syndrome

A

XXY

-male hypogonadism

44
Q

what are Klinefelter at increase risk for?

A
  • type 2 DM and metabolic syndrome

- 20x increase risk of breast cancer! And autoimmune diseases

45
Q

Turner syndrome

A

XO

  • -hypogonadism in phenotypic females
  • congenital heart disease (left sides) (COD)
  • -cystic hygroma
  • menopause before menarche
  • coarctation of the aorta = no dorsalis pedis pulse
  • horsehoe kidney
46
Q

what is cause of fragile X?

A
  • trinucleotide mutation in FMR1

- large expansion of CGG repeats

47
Q

what is hallmark of fragile X?

A

**macro-orchidism is key feature

48
Q

what causes huntingtons disease?

A
  • HTT gene on chr 4p16.3 encondes huntington-repeat expansion
  • CAG repeat
49
Q

what is the inheritance pattern of leber

A

mitochondrial

50
Q

what causes prader willi?

A

-deletion band q12 in long arm of chromosome 15
Or
-2 maternal copies of chromosome 15= uniparental disomy

51
Q

what causes angelman?

A

–deletion band q12 in long arm of chromosome 15
Or
Paternal chromosome carries maternal imprint

MOD 1- Lauren (5 decks)

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