Genetics Flashcards
Genes
unit of heredity that is transferred from parent to offspring and is held to determine some characteristic of the offspring, each gene tells teh cell how to perform a different function
DNA
Deoxyribonucleic acid, carrier of genetic information and material
chromosones
46 chromosomes, 23 pairs
different chromosomes contain different genes
genomes
“instruction book” for our body, composed of genes dna and chromosomes
mendelian mode of inheritance
The manner by which genes and traits are passed from parents to their children
non-mendelian mode of inheritance
no single gene is cause of disorder, environment is factor
autosomal dominant (mendelian mode of inheritance)
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes, 50 50 chance of passing it on. Parkinson disease caused by mutation to alpha-synuclien gene
autosomal recessive (mendelian mode of inheritance)
A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. ex congenital hearing loss
x linked forms of inheritance (mendelian mode of inheritance)
caused by mutations in x chromosome. more in males than females because males have just one X and doesn’t have a good X to help out. ex fragile x syndrome
What should a practicing audiologist or speech language pathologist do when he/she suspects that there is a genetic contribution to the child’s communication disorder but the child is yet to be diagnosed with a genetic disorder?
ask questions and draw a pedigree, make referrals, learn about genetic counseling and explain to families