Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathology Block 1 > Block 1 Genetics > Flashcards

Block 1 Genetics Flashcards

1
Q

Lifetime frequency of genetic disorders, rate of chromosomal abnormality -> spont abortion, newborns with gross chr abn, % from 1-25 with genetic comp disease

A

Life: 670/1000
Spont: 50%
Gross: 1%
Gen comp: 5%

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

Variable penetrance

A

Gene doesn’t penetrate all the way to phenotype

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

Anticipation

A

Gets worse with each generation; ex: FRAX, HD, myotonic dystrophy

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

Polymorphisms

A

Gene with at least 2 alleles tin at least 1% population, each with modest effect and low penetrance

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

Down Syndrome

A

1/700

Flat, epicanthal folds, Simian crease, nuchal skin, congenital heart VSD, leukemia, TB, pneumonia, AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Robertsonian translocation

A

14q21q chromosome, can cause trisomy 21

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

Down syndrome and AD?

A

Critical gene region for AD on chromosome 21

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

Genes important in Down Syndrome

A

DYRK1A (heart, brain), P Tau protein
DSCR1 - synapse malfunction
Both = regulate TF NFATc -> CNS development

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

Down Syndrome & green tea

A

EGCG in green tea –| DYRK1A

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

Down Syndrome & tumors

A

DSCR1 -> protein –| VEGF

Upregulated DYRK1A + DSCR1 –| tumor angiogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Marfan syndrome

A

AD; increased height, ectopia lentis, double-jointed, arachnodactyly, aorta ruptures ~30
Due to fibrillin-1 defect (elastin scaffolding)

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

Ehlers-Danlos syndrome

A

Collagen problem, commonly AD, wound repair problems
Type 4: colon blows at 16 - type 3 procollagen *vascular
Type 6: most common, cornea slides off - lysyl hydroxylase
Type 10: copper

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Familial hypercholesterolemia

A

AD; LDL-R defect -> atherosclerosis, elbow & eyelid lipoma; 1/500 heterozygotes in population

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

Cystic fibrosis

A

AR; 3-base deletion df508 –> CFTR; cystic and fibrotic pancreas -> malnutrition, steatorrhea, lung infections; meconium plug at birth, male infertility

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

Tay-Sachs disease

A

AR; HEX-A (chr 15), GM2 gangliosides; ~1 year, mental, physical degeneration -> 2,3 YOA. Cherry red spot on macula

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

Sandhoff disease

A

AR; HEX-B (chr 5) gene codes for protein essential to HEX-A,B, death by age 3

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

Niemann-Pick disease

A

AR; NPC1,2, SMPD1 genes -> sphingomyelinase

Neurons, liver, spleen, bone marrow, others; “onion-skin” myelin bodies on EM, cherry red spot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Gaucher’s disease

A

AR; beta-glucosidase (lysosomal gluco-cerebrosidase) housekeeper -> glucocerebroside

1: adult, mild, Ashk. Jews
2: infant, severe, anybody (hepatosplenomegaly)
3: juvenile, moderate, specific families (pathologic fracture, hepatosplenomegaly)

19
Q

Hunter/Hurler syndromes

A

Mucopolysaccharidoses; “gargoyle kids”; X-linked; alpha-L-iduronidase; clouded cornea, stiff joints, hepatosplenomegaly, MR, atherosclerosis

20
Q

Pompe’s disease

A

AR; lysosomal glucosidase (acid maltase), type 2 glycogen storage disorder, myopathic; severe form is fatal early with mm weakness, hypotonia, cardio/hepatomegaly; mild form resembles limb-girdle dystrophy (heart, mm, NS, leukos, liver, kidney)

21
Q

Von Gierke disease

A

Type 1 GSD; glucose-6-Pase

22
Q

Cori disease

A

Type 3 GSD; debranching enzyme

23
Q

Andersen disease

A

Type 4 GSD; branching enzyme

24
Q

McArdle disease

A

Type 5 GSD; muscle glycogen phosphorylase

25
Q

Hers disease

A

Type 6 GSD; glycogen phosphorylase

26
Q

Tarui disease

A

Type 7 GSD; muscle PFK

27
Q

Galactosemia

A

Galactose-1-phosphate uridyl transferase deficiency -> cataracts; can’t break down galactose (in milk), jaundice, cirrhosis, ascites

28
Q

Alkaptonuria (ochronosis)

A

Homogentisic acid oxidase -> Phe, Tyr can’t degrade fully -> black urine; rheumatism, black spots in weird places (whites of eyes, nose, inside ears)

29
Q

Neurofibromatosis types 1 and 2

A

Cafe au lait spots >3 cm, neurofibromas throughout life

1: Von Recklinghausen’s disease
2: schwannomas, meningiomas, no Lisch nodules (iris)

30
Q

Von Recklinghausen’s disease

A

Neurofibromatosis type 1; 17q11.2 NF1 gene from neural crest -> many sarcomas, early metastases; MR, rare cancers, Lisch nodules (iris), skeletal erosions

31
Q

Edwards syndrome

A

Sporadic trisomy 18; prominent occiput, MR, low ears, micrognathia, short neck, cong heart, renal malform, rocker-bottom feet; die by 18 months

32
Q

Patau syndrome

A

Sporadic trisomy 13; microcephaly, holoprosencephaly, MR, microphthalmia/cyclops, cleft lip/palate or elephant nose, cardiac, umb hernia or gastroschisis, rocker-bottom feet, polydactyly

33
Q

DiGeorge syndrome

A

Del 22q11.2 *T cell defects!

No branchial arches 2-4, hearts, faces, thymus

34
Q

Klinefelter’s syndrome

A

XXY -> sweet, slightly MR, slight breasts, small testes, not much hair, often infertile

35
Q

XYY syndrome

A

Taller, worse acne, no MR, may be more delinquent/impulsive

36
Q

Turner syndrome

A

XO; short, slight MR, streak ovary, webbed neck, valgus elbows, coarctation of aorta; often mosaic

37
Q

XXX, XXXX, etc.

A

Increased # = increased MR

38
Q

Hermaphroditism

A

True = very rare
Male pseudo is XY with feminized genitalia (deficient androgenization)
Female pseudo is XX with masculinized genitalia (excessive androgenization, virilizing adrenal hyperplasia *salt wasting)

39
Q

Testicular feminization

A

XY with no androgen receptors but normal testosterone levels; beautiful, long-legged, symmetrical, no menstruation because no uterus or cervix, blind vagina

40
Q

Fragile X syndrome

A

Triplet repeats of CGG, Xq27; oogenesis, MR, long face, large mandible, large everted ears, macroorchidism, anticipation

41
Q

Huntington’s Disease

A

CAG triplet repeats, AD

42
Q

Friedrich’s Ataxia

A

GAA triplet repeats on chr 9 FRDA gene for Frataxin; gait then all limb ataxia, puberty onset, in wheelchair by 25, death by cardiomyopathy

43
Q

Prader-Willi syndrome

A

Deletion at paternal 15q12 or maternal disomy 15; short, fat, male, MR

44
Q

Angelman syndrome

A

Deletion at maternal 15q12 or paternal disomy 15; severe MR, very happy

Pathology Block 1 (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions