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NURS 350 patho genet

Pathophys - genetics

genetics the study of single genes and their effects
genomics the study of the functions and interactions of all the genes in the genome, including their interactions with environmental factors
gene locus the position on a chromosome occupied by a gene
allele different forms of a gene that can be present at a given locus
genotype sequence of genes at a given locus
phenotype outward appearance of an indivdual (genotype + environment)
polymorphism locus that has 2+ alleles that occur with appreciable frequency in a population
single nucleotide polymorphism (SNP) change in a SINGLE nucleotide PAIR in a gene
mutations rare, spontanous alterations in the base sequence of a particular gene
The human genome contains 3 billion chemical nucleotide bases (A, C, T, and G). x
The total number of genes is estimated at around 20,000 x
The functions are unknown for over 50% of discovered genes x
The ratio of germline (sperm or egg cell) mutations is 2:1 in males vs females Researchers point to several reasons for the higher mutation rate in the male germline, including the greater number of cell divisions required for sperm formation than for eggs
Created by: lorrelaws