1Allele
Alternative form of a particular gene
2Alternative splicing
Natural use of different sets of splice junction sequences in a gene, to produce >1 protein product from a single gene
Removing different sections of the gene produces different proteins
3Assortive mating
Non-random mating
Individuals may choose partners who are similiar to themselves or who are dissimilar
4Autosomes
Chromosomes that do not vary with sex of individual
5Chromosomes
Bundles of proteins and DNA that carry genetic info and reside in the nucleus of the cell
6Codon
Triplet of nucleotides that either specifies an aa or serves as a termination/STOP signal
7Cone
Light sensitive cell in the retina
3 types
Colour recognised by comparing relative absorptions of these 3 types
8DZ twins
Non-identical
Fraternal
9DNase 1 hypersensitive sites
DNase 1 hypersensitive sites are regions of chromatin that are sensitive to cleavage by the enzyme DNase 1
They serve as indicators of sites where transcription factors can potentially bind and control the expression of genes
Cumulatively they correspond to ~21% of the human genome
10Dominance
Dominanct allele produces same phenotype regardless of whether it is homozygous or heterozygous
11DRD4
Gene that encodes the D4 receptor for dopamine
Has variant forms within population
Notorious candidate gene for novelty seeking
12Epigenetics
Study of modifications (methylation and acetylation of DNA) that affects expression of genes without changing the seqence of DNA
13Epistasis
Non-additive interaction between alleles at different loci
When expression of one gene depends on the expression of another gene
Complicates estimates of heritability in MZ and DZ twins
14Exon
Coding part within gene, transcribed by mRNA
Sequence of aa encoded by exons
15Expression
Protein produced from a gene
Transcription of DNA into mRNA
16F1, F2
Offspring of the first and second generations following mating between 2 inbred strains
17Gamete
Reproductive cell
ie. sperm and egg cells
18Gene
Basic unit of heredity
Sequence of DNA that codes for a protein and/or non-coding RNA
19Genome
All DNA sequence of an organism
Coding or non coding
3bill base pairs in humans
20Genotype
Particular combination of alleles that an individual has at a particular locus
21Heritability
Proportion of variance in a particular trait that can be attributed to genetic variations in a given population
22Heterozygous
Individual who has 2 different versions of a given gene
Different alleles at the same locus
23Homozygote
Individual who has same versions of a given gene on both chromosome
Same alleles at same locus
24Intron
Non coding DNA sections within a gene
Transcribed into mRNA but spliced out before translation into a protein
25Knock-out
Particular gene removed from an animal to infer the function of a gene
26Linkage
Degree to which genes are inherited independently
Genes that are physically close on the same chromosome are highly linked and are more likely to be expressed together
27Locus
Refers to particular position on a chromosome for an individual gene or DNA sequence
28mRNA
RNA that carries a template for synthesis of a protein from nucleus to ribosomes
29MZ twins
Identical
Identical genomes
30Nucleotide
Component of DNA corresponding to basic element of genetic code
Made up of sugar, phosphate and base
31Phenotype
Observed characteristic or feature
Genotype + environment
32Photopigment
Light absorbing pigment
Found in cones in retina
Also called 'opsins'
Heptahelical structure
33Polymorphism
Presence in a population of >1 form of a given feature or trait
OR
Presence in a population of >1 alleles of a given gene
34Polygenic risk score
Score based on alleles present at thousands of SNPs
Predict part of variance in a particular trait
Eg. personality, intelligence, SCZ
35Promoter region
Region outside coding part of gene
Nearby and upstream from a gene
Controls amount, time and place of expression of a gene
RNA polymerase binds to promoter region to initiate transcription of the gene
36Recessive
Allele that only produces effect on phenotypes if homozygous
37Recombination
Process of exchanging corresponding part of homologous chromosomes
During formation of gametes
38Single nucleotide polymorphism (SNP)
Genomic variant at a single base position in the DNA that is common in the population (>1%)
Substitution of a single nucleotide
Loci with alleles that differ at a single base, with the rarer allele having a frequency of at least 1% in a random set of individuals in a population
MUTATION : <1% of the total population
SNP : >1% of the total population
Alleles can be caused by SNPs
39Trait
Feature / behavioural property in which a given species varies
40Transcription
Construction of mRNA from a section of DNA that serves as a template
41Translation
Conversion from mRNA to protein from aa
42Triplet repeat expansion disorder
Class of disorders where a specific sequence of 3 bases is expanded to a length that produces a dysfunctional phenotype
Eg. Huntington disease, Fragile X Syndrome
43Whole-genome association study
Research study where:
Individuals are scored for a phenotypic characteristic or medical condition
Genomes are probed at 1mill+ SNPs in order to establish correlations between certain characteristics and certain genetic variants