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Human Genetics > Intro > Flashcards

Intro Flashcards

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Biology 101 flashcards
1
Q

Genotype

A

Set of alleles present in an individual

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2
Q

Phenotype

A

Physical manifestation of genotype

Observable traits

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3
Q

Locus

A

Position of gene on chromosome

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4
Q

Allele

A

Alternative variant of DNA sequence at a particular locus

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5
Q

Homozygote

A

2 alleles are identical

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6
Q

Heterozygote

A

2 alleles are different

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7
Q

Haplotype

A

Series of alleles that reside on the same chromosome

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8
Q

Mutation

A

Change in DNA sequence compared to wildtype sequence

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9
Q

Allele frequency

A

Fraction of chromosomes in a population that carry the given allele

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10
Q

Minor allele

A

Less frequent allele in population

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11
Q

Derived allele

A

Newer allele in population (more recently created by mutation)

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12
Q

Polymorphism

A

Variant for which the minor allele frequency is at least 1%

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13
Q

Central dogma of molecular biology

A

DNA -> RNA -> Protein

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14
Q

Number of distinct chromosomes in the human genome

A

24 (22 autosomes, 2 sex chromosomes)

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15
Q

How many nuclear genomes exist in a human cell?

A

2 (1 from mom, 1 from dad)

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16
Q

How many mitochondrial genomes can exist in a human cell?

A

Mitochondrial genome is unique to individual

Can have thousands

17
Q

About how many base pairs in the human genome?

A

About 3 billion

18
Q

What is a non-coding gene, and about how many are in the human genome?

A

Makes RNA but not protein

About 20,000

19
Q

What is a pseudogene, and about how many are in the human genome?

A

Remnants of functioning genes (used to be functioning, but no longer)
About 15,000

20
Q

About how much of human genome is repetitive?

A

About 1/2

21
Q

About how much of human genome is coding?

A

About 2-3%

22
Q

About how much DNA in human body?

A

About 40 trillion cells
About 4 meters of DNA per cell
All together, about 160 trillion meters

23
Q

Gene

A

Basic unit of heredity

Contains DNA which codes for a protein

24
Q

Molecular elaborations to genes: alternative splicing

A

Can create dozens of isoforms (functionally similar proteins that have similar, but not identical, amino acid sequence)

25
Q

Molecular elaborations to genes: introns

A

Introns of other genes can contain genes

26
Q

Molecular elaborations to genes: overlapping sequences

A

Genes can have overlapping sequences

27
Q

Molecular elaborations to genes: repetitive elements

A

Repetitive elements can contain and regulate genes

28
Q

Molecular elaborations to genes: RNA editing

A

RNA editing using information not encoded in DNA can result in differences in proteins

29
Q

Molecular elaborations to genes: pseudogenes

A

Copied genes that are not expressed into functional protein

Exist in genome

30
Q

Molecular elaborations to genes: non-translated genes

A

Code for miRNA, anti-sense RNA, lincRNAs, etc.

Exist in genome

Human Genetics (26 decks)

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