Modern Understanding of Inheritance Flashcards
Chromosomal Theory of Inheritance
Which states that chromosomes carry the unit of heredity (genes).
Karyotype
the number and appearance of chromosomes
Autosomes
“body chromosomes” (all of the non-sex chromosomes) are generally organized in approximate order of size from largest (chromosome 1) to smallest (chromosome 22)
Monosomy
loss of one chromosome
Trisomy
gain of an extra chromosome
Monosomic human zygotes
missing any one copy of an autosome invariably fail to develop to birth because they lack essential genes
Tay-Sachs Disease
lack of the enzyme that breaks down fatty acid proteins in lysosomes results in accumulation
Cystic Fibrosis
Cl ions do not pass normally through a cell membrane, resulting in thick mucus in lungs and other places, causing infections
Phenylketonuria (PKU)
lack of enzyme needed to make a certain amino acid; affects nervous system development
Sickle-Cell-Disease
red blood cells are sickle-shaped rather than biconcave, resulting in clogged blood vessels
Marfan Syndrome
defect in the production of the elastic connective tissue protein fibrillin; results in dislocated lens, long limbs, and fingers, caved-in chest, and weak wall of aorta
Osteogenesis imperfecta
defect in collagen synthesis; resulted in weakened, brittle bones
Huntington’s disease
Huntington’s protein has too many glutamine amino acids, leading to the progressive degeneration of brain cells