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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
Q

GCK function in liver

A

reduce glucose production

26
Q

GCK function in pancreas

A

increase insulin secretion

27
Q

Pancreas GCK mutation causes

A

reduced insulin secretion

28
Q

Liver GCK mutation causes

A

glucose production

29
Q

Name two genes with two promoters

A

GCK and HNF4a have two promoters

30
Q

GLUT2

A

Pancreas glucose receptor

31
Q

Fatigue symptom

A

Most common symptom in GDM (mother)

32
Q

Onset of gestational diabetes

A

Generally 24-28 weeks

33
Q

GDM prognosis for mother

A

Resolves after delivery

34
Q

macrosomia

A

large baby

35
Q

Lack of cortisol surge in fetus causes

A

delayed lung/organ maturation

36
Q

malformations seen in GDM infants

A

caudal regression, situs inversus, renal anomalies, cardiac anomalies, anal/rectal atresia, anencephaly, spina bifida

37
Q

caudal regression

A

most common malformation in GDM infants

38
Q

caudal regression means

A

aplasia or hypoplasia of lower spinal segments associated with the sacrum and lumbar spine

39
Q

situs inversus means

A

transposition of thoracic and abdominal organs (partial or complete forms)

40
Q

fetus energy source

A

glucose is the major energy source

41
Q

hypoglycemia impact for newborn

A

mental retardation, breathing problems, mortality/morbidity

42
Q

later life risk associated with GDM infants

A

T2DM

43
Q

Two risks for GDM mother

A

subsequent GDM pregnancy, T2DM

44
Q

HbA1C risk for malformations

A

Levels > 9.3%

45
Q

Twin studies are good to determine this

A

environmental effects

46
Q

Discordance means

A

expression of a trait in only one twin

47
Q

Monozygotic twins means

A

Identical twins; twins originating from a single zygote

48
Q

Other names for T1DM

A

Insulin dependent diabetes mellitus, juvenile onset diabetes

49
Q

Age of diabetes onset can distinguish

A

T2DM and MODY

50
Q

Other names for T2DM

A

non-insulin dependent diabetes mellitus, maturity onset diabetes (not the same as MODY)

51
Q

HLA chromosome location

A

Chromosome 6 is the location

52
Q

Class II proteins

A

Proteins associated with T1DM

53
Q

Diabetes associated with autoimmune disease

A

T1DM is associated with an autoimmune disorder

54
Q

Role of viruses in DM

A

Associated with T1DM

55
Q

HLA class II proteins are associated with what cells

A

T helper cells expressed on B cells, macrophages, thymus, dendrites

56
Q

Calpain is located

A

Only in islet cells

57
Q

Cells destroyed in T1DM

A

Islets of Langerhans are destroyed

58
Q

Activates immune system in T1DM

A

Viral infection induces this

59
Q

Types of genes involved in T2DM

A

Susceptibility genes

60
Q

Types of genes involved in multifactorial diseases

A

Susceptibility genes

61
Q

What normally protects pancreas from autoimmunity

A

Inability to express class II HLA molecules

62
Q

HLA-DP, HLA-DQ, HLA-DR

A

Most common and polymorphic HLA molecules

Endocrine Midterm (8 decks)

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