Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

cystic fibrosis mutation

A

-3 base mutation= protein that lack phenylalanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what chromosome does CF mutation occur on?

A

-CFTR gene on chromosome 7q31.2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

fragile X mutation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Tay-Sachs mutation

A
  • 4 base insertion in hexosaminidase A gene leads to frameshift
  • GM2 gangliosidase (cant catabolize) : hexosaminidase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what chromosome does Tay-Sachs mutation occur on ?

A

15

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is hallmark of Tay-Sachs?

A

-cherry red spot in macula

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

ABO blood type mutation

A

-single base deletion at ABO (glycosyltransferase locus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

sickle cell anemia mutation

A
  • defects in structure of globin molecule

- point mutation: valine replaces glutamic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Familial hypercholesterolemia mutation

A
  • loss of LDL receptors
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Osteogensis imperfecta

A

-reduction in collagen (spectrin) (RBC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Huntingtons disease mutation

A
  • gain of function
  • trinucleotide repeat
  • abnormal protein (huntington)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what enzyme do people with Phenylketonuria (PKU) lack?

A

-lack phenylalaine hydroxylase (PAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Vitamin D-resistant rickets inheritance

A

(X linked dominant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what enzyme do Galactosemia patients lack?

A

-deficiency of glactose-1-phosphate uridyltransferse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what enzyme do ppl with albinism lack?

A

tyrosinase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is the defect in marfan syndrome?

A

fibrillin-1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
what chromosome does Niemann picks disease occur on?
- chr 11p15.4 | - preferentially expressed on maternal chromosome
26
hallmarks of Niemann picks?
- zebra bodies - foamy cells - massive splenomagely
27
what is the deficiency in Gaucher
- lysosomal storage disease - -glucocerebrosidase mutation - accum. Of glucocerebroside in phagocytes
28
what is hallmark of Gaucher?
- bleeding issues - trouble fighting infections - due to destruction of bone marrow (filling up with gaucher cells) * crumpled tissue paper cytoplasm
29
Hurler syndrome deficeincy
- alpha-L-iduronidase | - -increase mucopolysaccharides
30
Von Gierke Type 1 deficiency
-gluocse-6-phosphatase def
31
hallmarks of Von Gierke Type 1
- hepatic enlargement | - hypoglycemia
32
McArdle (type v- myopathic) def
-muscle phosphorylase def
33
pompe disease deficiency
- def of lysosomal glucosidase (acid maltase)= lysosomal storage of glycogen in all organs - lack of branching enzyme
34
hallmark of pompe disease
- cardiomegaly - glycogen filled myocardial cells - -CHF
35
Trisomy 21 hallmark
- ventral septal defect, and atrial septal defect | - simian crease
36
Trisomy 21 increased risks
- increased risk of acute leukemia (age 20) | - develop changes characteristic of Alzheimer disease at younger age (50yrs old )
37
Trisomy 18 hallmarks
- usually die by 18 months - overlapping fingers - rocker bottom feet - micrognathia - low set ears - renal malformations*
38
Trisomy 13 hallmarks
- cleft lip and palate - Polydactyly - microphthalmia - umbilical hernia, may be gastroschisis
39
what chromosome is deleted in DiGeorge
-chromosome 22 deletion
40
what are hallmarks of DeGeorge?
“CATCH 22” - cardiac - abnormal facies - thymic aplasia - cleft palate hypocalcemia/hypoparathyroidism * *Fungal and viral infections not bacterial
41
what chromosome is deleted in Velocardiofacial syndrome
22
42
what are halmarks of Velocardiofacial syndrome
-facial dysmorphism (prominent nose, retrognathia), cleft palate, cardiovascular anomalies, learning disabilities
43
Klinefelter syndrome
XXY | -male hypogonadism
44
what are Klinefelter at increase risk for?
- type 2 DM and metabolic syndrome | - 20x increase risk of breast cancer! And autoimmune diseases
45
Turner syndrome
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
what is cause of fragile X?
- trinucleotide mutation in FMR1 | - large expansion of CGG repeats
47
what is hallmark of fragile X?
**macro-orchidism is key feature
48
what causes huntingtons disease?
- HTT gene on chr 4p16.3 encondes huntington-repeat expansion - CAG repeat
49
what is the inheritance pattern of leber
mitochondrial
50
what causes prader willi?
-deletion band q12 in long arm of chromosome 15 Or -2 maternal copies of chromosome 15= uniparental disomy
51
what causes angelman?
--deletion band q12 in long arm of chromosome 15 Or Paternal chromosome carries maternal imprint

MOD 1- Lauren (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions