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BMS > Genetics of Common Disorders with Complex Inheritance and Personalized Medicine > Flashcards

Genetics of Common Disorders with Complex Inheritance and Personalized Medicine Flashcards

1
Q

What percent of the genome is identical between individuals?

A

99%

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2
Q

1% of the DNA sequence between individuals is different. These DNA differences are called

A

Polymorphisms

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3
Q

Can be small insertions/deletions, differences in the number of repeats, or single nucleotide differences (SNPs)

A

Polymorphisms

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4
Q

Most polymorphisms are silent, meaning they exert no functional

A

Difference

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5
Q

The entire genome is equivalent to a book, each chromosome is equivalent to a chapter, each gene is equivalent to a paragraph, and each nucleotide is equivalent to a

A

Letter

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6
Q

A DNA change that severely alters the activity or expression of a gene

A

Mutation

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7
Q

Silent change in the DNA that does not alter the

expression or activity of the gene.

A

Polymorphism

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8
Q

Subtle changes that alter the levels or activity of a gene, but the gene is still in NORMAL range

A

Functional Polymorphism

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9
Q

How do we find relative risk?

A

Prevalence in affected / prevalence in unaffected

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10
Q

The variance within pairs of dizygotic (DZ) twins will be similar to that seen within monozygotic (MZ) twins, and heritability (h^2) will approach 0 if the variability of the trait is determined chiefly by the

A

Environment

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11
Q

If the variability is determined chiefly by the environment, the heritability will approach

A

0

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12
Q

If the variability is determined exclusively by genetic makeup, than the variance of MZ pairs is 0 and the heritability is

A

1

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13
Q

A single gene disorder named after Gregor Mendel

A

Mendelian Disorder

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14
Q

What are the three modes of inheritance for the Mendelian disorder?

A
  1. ) Recessive
  2. ) Dominant
  3. ) semi-dominant
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15
Q

To identify the causative gene, we want to sequence all the genes in the region and look for a mutation that segregates with disease in all

A

Pedigrees

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16
Q

To find the causative gene, we want to look for the presence of different mutations in different

A

Families

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17
Q

To identify the causative gene, we want to confirm that the mutation affects expression or activity of a

A

Gene

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18
Q

Deep sequencing, the next generation of sequencing, allows for sequencing the entire genome in a cheap and relatively fast manner. We can sequence the

A

Genome, Exome, or Transcriptome

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19
Q

Neural crest defect for cells that go on to form the enteric nervous system of the intestines

-leads to enlarged colon

A

Hirschsprung’s disease (HSCR)

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20
Q

The frequency of HSCR is

A

1/5000

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21
Q

Does not follow a simple recessive or dominant inheritance pattern

A

HSCR

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22
Q

The relative risk for siblings to get HSCR is about

-Monozygotic twins do not show perfect concordance

A

200

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23
Q

How much more likely are males within the family to get HSCR than females?

A

2x

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24
Q

HSCR is caused by a mutation in the tyrosine kinase receptor needed for neural crest migration known as

A

RET

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25
Q

Scanning of the genome for 67 siblings that both have HSCR showed that 55/67 siblings shared alleles at

A

10q11.2 (RET), 3p21, and 19q12

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26
Q

Are major health concerns and therefore understanding the biological basis of these disorders so new treatments can be developed is necessary

A

Common diseases

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27
Q

The phenotypic overlap of Multiple sclerosis (MS), type 1 diabetes, and survival bone marrow transplant is

A

Autoimmunity

28
Q

The phenotypic overlap of schizophrenia, bipolar disorder, and autism is

A

Neurodevelopmental disorder

29
Q

Refers to inheritance of a phenotypic characteristic (trait) that is attributable to two or more genes, or interaction with the environment, or both

A

Multi-factorial inheritance

30
Q

A character determined by the combined action of a number of genetic loci

A

Polygenic

31
Q

Caused by mutations in single genes

-ex: Cystic fibrosis and Duchene Muscular Dystrophy

A

Monogenic (Mendelian) disorders

32
Q

Do not follow simple recessive or dominant inheritance patterns

A

Multi-factorial diseases

33
Q

What are the risks for common diseases

A
  1. ) Genetic
  2. ) Epigenetic
  3. ) Non-genetic environmental factors
34
Q

What are two types of genetic risks for common diseases?

A

Functional polymorphisms (common variants) and mutations (rare variants)

35
Q

Hormones, diet, or infections that alter cell biological pathways

A

Non-genetic environmental factors

36
Q

Common diseases occur frequently in the population; some of the genetic susceptibility alleles are then likely to be

A

Common (>5%)

37
Q

Are likely to have less of a phenotypic effect per individual but would affect more individuals within the population

A

Common variants (functional polymorphisms)

38
Q

Would have a significant phenotypic effect per

individual but contribute less to general population

A

Rare variants (mutations)

39
Q

If we have two polymorphisms, A and G, and the A polymorphism is co-inherited with a disease allele, then the A polymorphism should be inherited more frequently in

A

Affected individuals

40
Q

If we have two polymorphisms, A and G, and the A polymorphism is co-inherited with a disease allele, then the G polymorphism should be inherited more frequently in

A

Unaffected individuals

41
Q

The previous polymorphism example was an example of an

A

Association study

42
Q

SNPs are co-inherited as blocks or bins. Panels are created with tagged SNPs for each bin. Thousands of people with the disease are recruited and their DNA is isolated and genotyped for their whole genome

A

Genome Wide Association Analysis (GWAS)

43
Q

Once the recruits have been genotypes, we then do statistical analysis to identify the

A

SNP alleles co-inherited with disease

44
Q

What are some problems with GWAS?

A

Reproducibility and functionality

45
Q

49% of variants in individuals affected with ASD are

A

Common inherited (A)

46
Q

Seeks to identify all functional elements in the human genome

A

ENCODE

47
Q

Identified protein coding regions contained in approximately 20,000 genes

-discovered that protein coding regions made up only 1% of genomeq

A

Human genome project

48
Q

Aims to characterize other functional DNA elements

A

ENCODE

49
Q

ENCODE discovered that what percent of the genome is involved in at least one biochemical event?

A

> 80%

50
Q

ENCODE discovered that 95% of the genome is within 8kb of a

A

DNA protein interaction

51
Q

What percent of the genome is within 1.7kb of an ENCODE identified event?

A

99%

52
Q

A substantial proportion of variants are annotated as having predicted functional effects in the

A

Non-coding category

53
Q

Affects the epigenome, transcriptome, proteome, and metabolome

A

Environment

54
Q

Says that risks of commmon diseases are due to epimutations

A

Epigenetic hypothesis

55
Q

Changes in the epigenetic signature

-affects gene regulation

A

Epimutation

56
Q

Contribute to non-genetic components of diseases

A

Epimutations

57
Q

Epimutations provide an interface between environmental factors and

A

Gene expression

58
Q

For many common diseases cause by epimutations, phenotypes are very

A

Heterogeneous

59
Q

The metabolic state of a cell is not invariant and is directly linked to

A

Cellular function

60
Q

The observation that most cancer cells predominantly produce energy by a high rate of glycolysis followed by lactic acid fermentation in the cytosol, rather than by a comparatively low rate of glycolysis followed by oxidation of pyruvate in mitochondria as in most normal cells.

A

Warburg effect

61
Q

What most human diseases are, where if you get one allele, you have a certain clinical phenotype, but if you get two mutant alleles, you have a much worse phenotype

A

Semi-dominant

62
Q

Looks like AD, but may appear to skip a generation

A

Incomplete penetrence

63
Q

Identifying pieces of DNA that are co-inherited with the mutation

A

Genetic linkage

64
Q

A handful of mutations cause these diseases as opposed to just one

-Ex: HSCR

A

Simple complex disorders

65
Q

Pose less individual risk, but more population risk

A

Common varaints

66
Q

Tell us how the cell is functioning

A

Metabolites

BMS (62 decks)

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