Intro Flashcards
Genotype
Set of alleles present in an individual
Phenotype
Physical manifestation of genotype
Observable traits
Locus
Position of gene on chromosome
Allele
Alternative variant of DNA sequence at a particular locus
Homozygote
2 alleles are identical
Heterozygote
2 alleles are different
Haplotype
Series of alleles that reside on the same chromosome
Mutation
Change in DNA sequence compared to wildtype sequence
Allele frequency
Fraction of chromosomes in a population that carry the given allele
Minor allele
Less frequent allele in population
Derived allele
Newer allele in population (more recently created by mutation)
Polymorphism
Variant for which the minor allele frequency is at least 1%
Central dogma of molecular biology
DNA -> RNA -> Protein
Number of distinct chromosomes in the human genome
24 (22 autosomes, 2 sex chromosomes)
How many nuclear genomes exist in a human cell?
2 (1 from mom, 1 from dad)
How many mitochondrial genomes can exist in a human cell?
Mitochondrial genome is unique to individual
Can have thousands
About how many base pairs in the human genome?
About 3 billion
What is a non-coding gene, and about how many are in the human genome?
Makes RNA but not protein
About 20,000
What is a pseudogene, and about how many are in the human genome?
Remnants of functioning genes (used to be functioning, but no longer)
About 15,000
About how much of human genome is repetitive?
About 1/2
About how much of human genome is coding?
About 2-3%
About how much DNA in human body?
About 40 trillion cells
About 4 meters of DNA per cell
All together, about 160 trillion meters
Gene
Basic unit of heredity
Contains DNA which codes for a protein
Molecular elaborations to genes: alternative splicing
Can create dozens of isoforms (functionally similar proteins that have similar, but not identical, amino acid sequence)
