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REM II > Genetics > Flashcards

Genetics Flashcards

1
Q

What Gene is mutated in Marfan syndrome

A

FBN1

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2
Q

What is the inheritance pattern of Klinefelter syndrome

A

47 XXY

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3
Q

What are common symptoms in adolescence for Klinefelter syndrome

A 
Long legs
Gynecomastia
Small testes
Learning disabilities
Psychosocial abnormality
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4
Q

What is the inheritance pattern of Marfan syndrome

A

Autosomal dominant

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5
Q

What are the syndromes of short stature?

A 
GH deficiency
Laron
dwarfism
noonan
turner
prader willi
angelman
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6
Q

which short stature syndromes are chromosomal

A

turner
prader willi
angelman

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7
Q

What stays normal with GH deficiency?

A

intelligence

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8
Q

What does Laron effect?

A

growth hormone receptor

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9
Q

What are the genetics of Laron?

A

autosomal recessive

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10
Q

How do you treat GH deficiency?

A

With GH

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11
Q

How do you test for GH deficiency?

A

IGF1

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12
Q

What is the release pattern of GH?

A

pulsatile

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13
Q

Does laron Syndrome respond to GH or IGF1?

A

IGF1

not GH as there are still no receptors

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14
Q

What gene does dwarfism effect?

A

FGFR3

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15
Q

What is the genetic pattern of dwarfism?

A

autosomal dominant

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16
Q

What pathway does FGFR3 work through?

A

MAP kinase pathway

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17
Q

What is the gene effected by Noonan?

A

RAS through MAP kinase pathway and increased protein tyrosine phosphatase activity

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18
Q

What is the genetic pattern of Noonan?

A

autosomal dominant

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19
Q

What are characteristic features of noonan?

A

neck skin webbing, inverted triangle shaped face, widely spaced nipples, wide forehead, curly/wooly hair, small stature

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20
Q

Is there a specific mutation associated with noonan?

A

PTPN11

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21
Q

what gene is affected by turner?

A

SHOX

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22
Q

What does turner syndrome look like on kareotype?

A

Single X chromosome

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23
Q

What does klinefelter look like on kareotype?

A

XXY

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24
Q

Which parent has the aneuploidy for turners?

A

nondisjunction in the father

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25
Q

What two syndromes look similar characteristically?

A

Turner and Noonan

26
Q

What chromosome is affected with prader willi?

A

Chromosome 15, maternal

27
Q

What are the characteristics of prader willi?

A

extreme obesity, short stature, intellectual disability, hyperphagia, hypogonadism

28
Q

What chromosome is affected with angelman?

A

paternal chromosome 15

29
Q

Deletion of prader willi syndrome region from paternal chromosome causes?

A

prader willi syndrome

30
Q

Deletion of prader willi syndrome region from maternal chromosome causes?

A

Angelman

31
Q

what is the most common cause of prader Willi?

A

deletion of region

32
Q

What are tall stature syndromes?

A

GH excess
Sotos
Marfan
Kleinfelter

33
Q

Characteristics of Kleinfelter syndrome?

A 
tall stature w/ long arms
sterile
gynocomastia, small testes, androgen deficient
learning disability
metabolic syndrome
34
Q

What gene is affected by Kleinfelter?

A

SHOX

35
Q

What gene is affected with sotos?

A

NSD1

36
Q

What are the genetics of Sotos?

A

AD haploinsufficiency

37
Q

what are the genetics of GH excess?

A

autosomal dominant

38
Q

How does MEN1 present endocrinely?

A

pituitary adenoma
parathyroid hyperplasia
pancreatic tumors

39
Q

How does MEN 2 present endocrinely?

A

parathyroid hyperplasia
medullary thyroid carcinoma
pheochromocytoma

40
Q

what gene is affected in MEN 1?

A

MEN1- loss of function

41
Q

what is the protein affected with MEN1?

A

menin (tumor suppressor)

42
Q

What is the genetic inheritance pattern of MEN1?

A

autosomal dominant

43
Q

What gene is affected in MEN2?

A

RET; gain of function

44
Q

what is the protein affected in MEN2?

A

RET; protooncogene

45
Q

what is the genetic inheritance of MEN2?

A

autosomal dominant

46
Q

What is the clinical presentation of MEN2?

A

high blood calcitonin

47
Q

What is the clinical presentation of MEN1?

A

hypercalcemia, hypercaliuria, kidney stones, low bone mass, dehydration, constipation, CVD

48
Q

What is the difference between MEN2A vs MEN2B mutation?

A

2A mutation at cysteine rich region and needs to be dimerized
2B mutation at tyrosine kinase, receptor is turned on, does not need dimerization (worst)

49
Q

What makes FMTC different from other MEN2 mutations?

A

tumors are only in thyroid gland

50
Q

What age do you get a total thyroidectomy for MEN2A? MEN2b?

A

2A- before 5 yo

2B- before 1 yo

51
Q

How are the HLA genes inherited?

A

As a haplotype

52
Q

What HLA types decrease risk of T1DM? Increase?

A

DR2 & DR5

DR3 & DR4

53
Q

What is the main no HLA gene associated with TIDM

A

IDDM2 chromosome 11
Class I- low insulin gene expression increases risk of diabetes
Class III- high insulin gene expression decreased risk of diabetes

54
Q

What is PPAR gamma? And what is it associated with

A

Transcription factor

Associated with TIIDM

55
Q

What variant of PPARG is protective against TIIDM

A

Pro12Ala

Keeps it more active

56
Q

What are the functions of PPARG

A 
Insulin sensitization
Glucose lowering
Triglyceride lowering
Anti atherosclerotic
Antihypertensive
57
Q

What is Kir6.2? And what is it associated with

A

Potassium channel that is needed for insulin release; inc ATP closes k channels leading to insulin release
Regulated by G proteins
Associated with DM type 2

58
Q

What happens to Kir6.2 in type 2 DM

A

The k pore doesn’t close so the membrane doesn’t depolarize and so insulin won’t be released

59
Q

What mutation of Kir6.2 increases type 2 DM risk?

A

Glu23Lys

60
Q

What is the most common genetic cause of MODY

A 
MODY3 HNF1alpha
Typically activated by insulin 
AD
Mutations cause defective dimerization
Defective nuclear translocation 
Low to no Dna binding
61
Q

Dx criteria for MODY

A

Age of onset for at least one family member under 25
Correction of fasting hyperglycemia for at least 2 yrs without insulin
Non ketotic

REM II (11 decks)

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