Complex disease & pharmacogenetics Flashcards
What is an allele?
An alternative form of the gene occupying the same locus
What is a locus?
Specific position on a chromosome, whereby a gene responsible for a particular trait is located.
What is codominance?
Two different alleles of a heterozygote are both expressed in the phenotype
What is sex-linkage?
Results when genes are located on the sex chromosomes, whereas autosomal linkage is the converse
What is polygenic inheritance?
A single feature is determined by more than one interacting genes
A particular feature can significantly be influenced by environmental factors during development
What is a chi-squared test?
A statistical test to evaluate whether the observed phenotypic ratios differ significantly from the theoretical frequencies.
What is gene mapping?
A technique used to locate the specific position of a gene occupies on a chromosome
What is a phenotype?
Description of the character manifested by a gene
What is a genotype?
The genetic constitution of an individual at a particular locus
How many blood group allelic forms exist?
3, IA, IB, and IO
What are the mendelian traits?
Phenotype is controlled by a single gene, inheritance abides Mendelian principles; homozygous (identical genes); double homozygous cross breed results in single expressed phenotype and genotype within the first filial generation
How are Mendelian diseases studied?
Analyzing genetic pedigrees
What are the complex traits?
Phenotype is controlled by multiple genes, in addition to environmental influences
How are complex diseases studied?
Studied by evaluating affected individuals within a sampled population
What are SNPs (Genetics)?
Single nucleotide polymorphisms
DNA sequence variations that occur when a single nucleotide is altered; a common form of variation within the human genome.