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Endocrine Midterm > Genetics Quizlet > Flashcards

Genetics Quizlet Flashcards

1
Q

Age of onset < 20

A

Diabetes mellitus type 1 (T1DM)

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2
Q

Age of onset > 30

A

Diabetes mellitus type 2 (T2DM)

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3
Q

Ketoacidosis association

A

T1DM

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4
Q

Ketoacidosis uncommon

A

T2DM

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5
Q

T2DM weight association

A

Obesity

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6
Q

Diabetes strongest genetics association

A

T2DM

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7
Q

Concordance

A

expression of trait in both twins; often expressed as a percentage

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8
Q

80-90% primary diabetes cause

A

T2DM greatest cause of primary diabetes mellitus

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9
Q

DQ/DR linkage

A

T1DM

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10
Q

DM with autoimmunological component

A

T1DM

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11
Q

Insulin deficient DM

A

T1DM

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12
Q

Insulin resistent DM

A

T2DM

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13
Q

MODY age of onset

A

< age 25

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14
Q

Autosomal dominant diabetes

A

MODY

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15
Q

Transcription factors

A

Most common MODY genes

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16
Q

Glucokinase

A

Second most common MODY - MODY 2

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17
Q

Hepatic nuclear factor 1-alpha

A

Most common MODY - MODY 3

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18
Q

Loss of function mutations

A

Mechanism of MODY mutations action

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19
Q

Glucokinase function

A

regulation of glucose metabolism

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20
Q

Liver and pancreas

A

site of glucokinase regulation of glucose metabolism

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21
Q

Hexokinase

A

regulation of glucose metabolism in cells other than liver and pancreas

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22
Q

Tissue specific regulation

A

Type of regulation for GCK and HNF4a

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23
Q

SNP means

A

single nucleotide polymorphism; one nucleotide change

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24
Q

Two types of diabetes sharing SNPs

A

T2DM and MODY

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25
GCK function in liver
reduce glucose production
26
GCK function in pancreas
increase insulin secretion
27
Pancreas GCK mutation causes
reduced insulin secretion
28
Liver GCK mutation causes
glucose production
29
Name two genes with two promoters
GCK and HNF4a have two promoters
30
GLUT2
Pancreas glucose receptor
31
Fatigue symptom
Most common symptom in GDM (mother)
32
Onset of gestational diabetes
Generally 24-28 weeks
33
GDM prognosis for mother
Resolves after delivery
34
macrosomia
large baby
35
Lack of cortisol surge in fetus causes
delayed lung/organ maturation
36
malformations seen in GDM infants
caudal regression, situs inversus, renal anomalies, cardiac anomalies, anal/rectal atresia, anencephaly, spina bifida
37
caudal regression
most common malformation in GDM infants
38
caudal regression means
aplasia or hypoplasia of lower spinal segments associated with the sacrum and lumbar spine
39
situs inversus means
transposition of thoracic and abdominal organs (partial or complete forms)
40
fetus energy source
glucose is the major energy source
41
hypoglycemia impact for newborn
mental retardation, breathing problems, mortality/morbidity
42
later life risk associated with GDM infants
T2DM
43
Two risks for GDM mother
subsequent GDM pregnancy, T2DM
44
HbA1C risk for malformations
Levels > 9.3%
45
Twin studies are good to determine this
environmental effects
46
Discordance means
expression of a trait in only one twin
47
Monozygotic twins means
Identical twins; twins originating from a single zygote
48
Other names for T1DM
Insulin dependent diabetes mellitus, juvenile onset diabetes
49
Age of diabetes onset can distinguish
T2DM and MODY
50
Other names for T2DM
non-insulin dependent diabetes mellitus, maturity onset diabetes (not the same as MODY)
51
HLA chromosome location
Chromosome 6 is the location
52
Class II proteins
Proteins associated with T1DM
53
Diabetes associated with autoimmune disease
T1DM is associated with an autoimmune disorder
54
Role of viruses in DM
Associated with T1DM
55
HLA class II proteins are associated with what cells
T helper cells expressed on B cells, macrophages, thymus, dendrites
56
Calpain is located
Only in islet cells
57
Cells destroyed in T1DM
Islets of Langerhans are destroyed
58
Activates immune system in T1DM
Viral infection induces this
59
Types of genes involved in T2DM
Susceptibility genes
60
Types of genes involved in multifactorial diseases
Susceptibility genes
61
What normally protects pancreas from autoimmunity
Inability to express class II HLA molecules
62
HLA-DP, HLA-DQ, HLA-DR
Most common and polymorphic HLA molecules

Endocrine Midterm (8 decks)

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