| A | B |
|---|
| mutation | a change in a gene |
| mutation effects | helpful, harmful, or neutral |
| chromosomal mutation | a change in the number or structure of chromosomes |
| deletion | a mutation caused by a loss of part of a chromosome |
| duplication | a mutation that occurs when a segment of a chromosome is repeated |
| inversion | a mutation caused when part of a chromosome becomes oriented in the reverse of its usual direction. |
| translocation | a mutation caused when part of one chromosome breaks off and attaches to another, nonhomologous chromosome. |
| nondisjunction | a mutation caused by the failure of homologous chromosome to separate during meiosis |
| polyploidy | the condition in which an organism has an extra set of chromosomes |
| a-b-c-d-e-f to a-b-b-c-d-e-f | an example of a duplication |
| a-b-c-d-e-f to a-c-d-e-f | an example of a deletion |
| a-b-c-d-e-f to c-b-a-d-e-f | an example of an inversion |
| point mutation | a change that affects not more than a single nucleotide; may cause a change of one amino acid in the polypeptide |
| gene mutation | mutation in individual genes; affects DNA molecule |
| frameshift mutation | an insertion or deletion of a nucleoide, shifting the grouping of codons thus possibly changing more than just one amino acid |
| cystic fibrosis | a disease caused by a recessive gene that causes an accumulation of mucus in the lungs and pancreas clogging ducts. The patient has difficulty breathing and digesting food. Occurs in people of European ancestry |
| sickle cell anemia | a disease that causes red blood cells to be shaped irregularly; people of african ancestry are at risk |
| down syndrome | a disorder caused by an extra copy of chromosome 21 (nondisjunction) Children born to mothers over the age of 35 are at risk |
| hemophilia | a sex-linked recessive trait in which the individual's blood is slow to clot or does not clot at all. |
| Ss | The genotype of an individual who is resistant to malaria; this individual has some sickle cells and some normal red blood cells |
| SS | The genotype of a normal hemoglobin individual |
| ss | The genotype of an individual who is a sickle cell sufferer |
| Malaria | the leading cause of death in Africa and tropical regions |
| Amniocentesis | a method used to detect chromosomal disorders |
| sex-linked traits | traits whose genes are located on sex chromosomes |
| colorblindness | a sex-linked trait |
| genetic counseling | a process that helps indentify parents at risk for having children with genetic defects |
| pedigree | a record covering many generations that indicates how a trait is inherited |
| phenylketonuria | a disorder in which addected individuals lack an enzyme responsible for converting phenylalanine to tyrosine; causes mental retardation |
