Connecting Inheritance to Disorders

Abberation

any deviation from normal structure or # of chromosomes

Aneuploid

abnormal # of chromosomes, unbalanced genetic situation

autosomal dominant disorder

genetic condition where only one copy of mutated gene is present

autosomal recessive disorder

genetic condition only appears when 2 copies of mutated gene are present

autosome

any chromosome that isnt a sex chromosome

barr body

inactivated C chromosome found in female cells

bioinformatics

science of using computers to analyze bio data, especially genetic info

carrier

one copy of recessive gene but doesn’t show symptoms of condition

consanguineous

mating between closely related animals, sibling or parent offspring pairs

euploid

having correct # of chromosomes

expressivity

how strong genetic trait shows up when present

genetic recombination

natural mix and match of gene material during reproduction or in lab

genome sequencing

lab method reads genetic code by breaking DNA into fragments

germline mutation

genetic changes in egg/sperm, can be passed to offspring

karyogram

digital image showing all an animals chromosomes in order by size and shape

monosomy

condition where one chromosome is missing from pair

pedigree

family tree chart, shows inheritance pattern through generations

penetrance

likelihood that a gene will cause observable symptoms

polymorphism

common genetic variations that occur in more than 1% of population

proband

first affected individual in a family to be studied for genetic condition

recombinant DNA technique

lab techniques that combine genetic material from different sources to create new products like meds, vaccines, or diagnostic tools

somatic mutations

genetic changes in body cells, usually due to radiation/chemicals

transgenic organism

organism that contains genes from other species (GMO)

translocation

chromosomal abnormality where segment of chromosome breaks off and attaches to a different chromosome

X-Inactivation

one X chromosome in each cell of female is randomly “turned off” early in development, lading to Barr body