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MCB 701 > Allred 2 > Flashcards

Allred 2 Flashcards

1
Q

Phenotype

A

The observable property of an organism; a trait such as height, weight, medical condition, etc.

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2
Q

Genotype

A

The DNA sequence at a specific, defined location; not necessarily observable; can be expressed in a variety of ways

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3
Q

Allele

A

A DNA sequence at a specific chromosome; the genotype is made up of alleles, one allele per chromosome; all DNA sequences (not just genes) are alleles

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4
Q

Homozygous

A

Two identical alleles at the same locus

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5
Q

Heterozygous

A

Different alleles at the same locus

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6
Q

Dominant trait

A

A single copy of the gene (allele) is sufficient to express phenotype

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7
Q

Recessive trait

A

Two copies of the gene (allele) are necessary to express phenotype

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8
Q

Codominant trait

A

Both alleles are expressed as observable phenotypes

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9
Q

Blood Type A

A

UDP-N-acetylgalactose

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10
Q

Blood Type B

A

UDP-Galactose

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11
Q

Blood Type O

A

No additional sugar attachment

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12
Q

Locus

A

A specific location on the chromosome (plural: loci)

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13
Q

ABO Blood Group

A

Multiple alleles in the population at the ABO locus; there are multiple combinations of alleles to create multiple genotypes/phenotypes

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14
Q

Why are mouse models used in genetic studies?

A

Answers questions that ask if two genetic loci are on the same chromosome

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15
Q

Chiasma

A

INSERT

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16
Q

Silent mutation

A

A change in base pairs that does not lead to a change in amino acid sequence; synonymous change

17
Q

Nonsense mutaion

A

Premature termination

18
Q

Missense termination

A

A change in base pairs that leads to a change in amino acid sequence; nonsynonymous change

19
Q

Frameshift mutation

A

Addition or deletion in nucleotide sequence

20
Q

Autosomal Dominant Disorder

A

A genetic disorder that requires one copy of the mutated gene to express the disease

Can be caused by new mutation, or due to penetrance and expression variability

21
Q

Penetrance

A

The likelihood of the presence of a disease when the mutation is present

22
Q

Variability of expression

A

The disease has a wide range of phenotypic expression

23
Q

Autosomal Recessive Disorder

A

A genetic disorder that requires two copies of the mutated gene to express the disease

Early onset of disease
Fully penetrant
Found with genes that encode for enzymes

24
Q

X linked disorders

A

Expressed in males; females with the gene are obligate carriers; all daughters of affected fathers are carriers

25
Q

Mitochondrial disorders

A

Nonmendalean
No transmission from affected males
Affected females transmit disease to all of their offspring
Disease involve oxidative phosphorylation defects

26
Q

Gene heterogeneity

A

more than one gene can contribute to phenotype

27
Q

Gene-Gene interaction

A

both genes combined have an effect

28
Q

Gene-environment interaction

A

Gene suseptibility only observed in the presence of specific environmental triggers

29
Q

Phenocopies

A

The same phenotype caused by environmental factors only

30
Q

Epigenetics

A

Modification of histones or DNA sequence by environmental factors

31
Q

Types of polymorphisms

A

Microsatellites (SSR)

Single Nucleotide Polymorphisms (SNP)

32
Q

Single nucleotide polymorphism

A

Single base changes
Naturally occuring variants
Most do not account for phenotypic variability, no “normal” or “wild-type” allele
Used mostly for candidate gene and genome-wide association studies
May be slight changes for gene functioni or expression levels
Can be in the intron/exon

33
Q

How can a SNP affect susceptibility of a complex disease?

A

Many complex diseases occur later in life

SNPs cause slight changes in gene expression levels or function that take time to lead the clinical phenotype

Initially the body will compensate for SNP effects, but will eventually lose the ability to do so

34
Q

Where does the SNP effect?

A 
Exons: Protein structure or function
Promoter/Enhancer: Expression level
Introns: splicing or expression level
5' UTR: ribosome binding, protein level
3' UTR: Transcript stability
35
Q

Linkage Disequilibrium (LD)

A

The non-random association of alleles at two or more loci
LD Differs by genomic region
LD Differs by genetic ancestry

36
Q

Steps for Disease Gene Identification

A 
Is there a genetic component
Research subject ascertainment
Measurement of phenotype
Molecular/Analytical analysis
Functional analysis
37
Q

Genetic component factors

A

Twin concordance

Familial aggregaion

38
Q

Genetic subject ascertainment

A

Sib-pair
Families
Case-control

39
Q

GWAS

A

Genome-wide association study
Scan the genome using > 1m SNP to search for variants that differ in frequency between cases and controls; identifies common genetic variants with a weak influence on the phenotype

MCB 701 (5 decks)

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