Intro And Need To Know Flashcards
What is a polymorphism?
Natural variations in a gene, DNA sequence/chromosome that has no adverse effects that occurs with high frequency throughout the general population
What is an allele?
One of the alternative versions of a gene at a given locus on the chromosome. 2 for each gene (1 from each parent)
What is a variant?
An alteration in the normal sequence of a gene, significance unclear until further study
What is a mutation?
Any alteration in a gene from its natural state. May be disease causing or a benign, normal variant
Copy number
The number of copies of a particular gene
Genotype
An individual’s collection of genes. Can also mean the two alleles inherited for a particular gene. Expressed when transcribed and translated giving the phenotype
Homozygous
Individual inherits the same alleles for a particular gene
Heterozygous
Individual inherits two different alleles at a particular locus (one from each parent)
Marker
An identifiable segment of DNA (RFLP, VNTR, microsatellite) known physical location, can link inherited disease with the responsible genes as tend to be inherited together (close proximity)
Linkage
The close association of genes or other DNA sequences on the same chromosome. The closer they are together, the greater the probability that they will be inherited together
Genetic recombination
The exchange of a segment of DNA between two homologous chromosomes during meiosis leading to a novel combination of genetic information in the offspring
Contig
From contiguous - a series of overlapping DNA sequences used to make a physical map of the original chromosome/region of the chromosome
Haplotype
A set of DNA variations, or polymorphisms that tend to be inherited together. Can be a combination of alleles or SNPs found on the same chromosome
De novo
From scratch
Inherited
Transferred from parent to child by information in genes
