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NURS 350 patho genet
Pathophys - genetics
Question | Answer |
---|---|
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 |