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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
What two syndromes look similar characteristically?
Turner and Noonan
26
What chromosome is affected with prader willi?
Chromosome 15, maternal
27
What are the characteristics of prader willi?
extreme obesity, short stature, intellectual disability, hyperphagia, hypogonadism
28
What chromosome is affected with angelman?
paternal chromosome 15
29
Deletion of prader willi syndrome region from paternal chromosome causes?
prader willi syndrome
30
Deletion of prader willi syndrome region from maternal chromosome causes?
Angelman
31
what is the most common cause of prader Willi?
deletion of region
32
What are tall stature syndromes?
GH excess Sotos Marfan Kleinfelter
33
Characteristics of Kleinfelter syndrome?
``` tall stature w/ long arms sterile gynocomastia, small testes, androgen deficient learning disability metabolic syndrome ```
34
What gene is affected by Kleinfelter?
SHOX
35
What gene is affected with sotos?
NSD1
36
What are the genetics of Sotos?
AD haploinsufficiency
37
what are the genetics of GH excess?
autosomal dominant
38
How does MEN1 present endocrinely?
pituitary adenoma parathyroid hyperplasia pancreatic tumors
39
How does MEN 2 present endocrinely?
parathyroid hyperplasia medullary thyroid carcinoma pheochromocytoma
40
what gene is affected in MEN 1?
MEN1- loss of function
41
what is the protein affected with MEN1?
menin (tumor suppressor)
42
What is the genetic inheritance pattern of MEN1?
autosomal dominant
43
What gene is affected in MEN2?
RET; gain of function
44
what is the protein affected in MEN2?
RET; protooncogene
45
what is the genetic inheritance of MEN2?
autosomal dominant
46
What is the clinical presentation of MEN2?
high blood calcitonin
47
What is the clinical presentation of MEN1?
hypercalcemia, hypercaliuria, kidney stones, low bone mass, dehydration, constipation, CVD
48
What is the difference between MEN2A vs MEN2B mutation?
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
What makes FMTC different from other MEN2 mutations?
tumors are only in thyroid gland
50
What age do you get a total thyroidectomy for MEN2A? MEN2b?
2A- before 5 yo | 2B- before 1 yo
51
How are the HLA genes inherited?
As a haplotype
52
What HLA types decrease risk of T1DM? Increase?
DR2 & DR5 | DR3 & DR4
53
What is the main no HLA gene associated with TIDM
IDDM2 chromosome 11 Class I- low insulin gene expression increases risk of diabetes Class III- high insulin gene expression decreased risk of diabetes
54
What is PPAR gamma? And what is it associated with
Transcription factor | Associated with TIIDM
55
What variant of PPARG is protective against TIIDM
Pro12Ala | Keeps it more active
56
What are the functions of PPARG
``` Insulin sensitization Glucose lowering Triglyceride lowering Anti atherosclerotic Antihypertensive ```
57
What is Kir6.2? And what is it associated with
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
What happens to Kir6.2 in type 2 DM
The k pore doesn't close so the membrane doesn't depolarize and so insulin won't be released
59
What mutation of Kir6.2 increases type 2 DM risk?
Glu23Lys
60
What is the most common genetic cause of MODY
``` MODY3 HNF1alpha Typically activated by insulin AD Mutations cause defective dimerization Defective nuclear translocation Low to no Dna binding ```
61
Dx criteria for MODY
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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