Genetics Quizlet Flashcards Preview

Endocrine Midterm > Genetics Quizlet > Flashcards

Flashcards in Genetics Quizlet Deck (62):
1

Age of onset < 20

Diabetes mellitus type 1 (T1DM)

2

Age of onset > 30

Diabetes mellitus type 2 (T2DM)

3

Ketoacidosis association

T1DM

4

Ketoacidosis uncommon

T2DM

5

T2DM weight association

Obesity

6

Diabetes strongest genetics association

T2DM

7

Concordance

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

8

80-90% primary diabetes cause

T2DM greatest cause of primary diabetes mellitus

9

DQ/DR linkage

T1DM

10

DM with autoimmunological component

T1DM

11

Insulin deficient DM

T1DM

12

Insulin resistent DM

T2DM

13

MODY age of onset

< age 25

14

Autosomal dominant diabetes

MODY

15

Transcription factors

Most common MODY genes

16

Glucokinase

Second most common MODY - MODY 2

17

Hepatic nuclear factor 1-alpha

Most common MODY - MODY 3

18

Loss of function mutations

Mechanism of MODY mutations action

19

Glucokinase function

regulation of glucose metabolism

20

Liver and pancreas

site of glucokinase regulation of glucose metabolism

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Hexokinase

regulation of glucose metabolism in cells other than liver and pancreas

22

Tissue specific regulation

Type of regulation for GCK and HNF4a

23

SNP means

single nucleotide polymorphism; one nucleotide change

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Two types of diabetes sharing SNPs

T2DM and MODY

25

GCK function in liver

reduce glucose production

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GCK function in pancreas

increase insulin secretion

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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

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hypoglycemia impact for newborn

mental retardation, breathing problems, mortality/morbidity

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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