| A | B |
|---|
| autosome | a chromosome that is not a sex chromosome |
| chromosome | a thread-like structure made of molecules within the nucleus that contains genetic information that is passed from one generation to the next |
| gene | a sequence of DNA that codes for/determines a specific trait |
| karyotype | a picture of the complete diploid set of chromosomes grouped together in pairs, arranged in order of decreasing size |
| pedigree | chart that shows the presence or absence of a trait according to the relationships within a family across several generations |
| sex chromosome | one of the 2 chromosomes which determine an individual's sex (XX or XY) |
| congenital disorder | a disorder that a person is born with |
| a disorder that is caused by a defect associated with one or both of a person's sex chromosomes (X and/or Y) | sex-linked disorder |
| autosomal disorder | a disorder that is caused by a problem related to an autosomal chromosome (non-sex chromosome) |
| 22 | number of autosomal pairs of chromosomes in a human |
| 1 | number of pairs of sex chromosomes in a human |
| sex-linked gene | A gene located on the sex chromosome (either x or y) |
| non-disjunction | Failure of a chromosome pair to separate correctly during meiosis |
| trisomy | A condition that happens when cells contain too many copies of a chromosome (3 instead of just 2 copies) |
| amniocentesis | A prenatal technique that involves withdrawing a small amount of fluid from the sac surrounding the fetus |
| CVS (chorionic villus sampling) | A prenatal technique that involves the removal and examination of tissue surrounding the fetus |
| barr body | the inactive X chromosome in a female somatic cell |
| Tay-Sachs disease | a deadly disease of the nervous system caused by one missing base pair of a chromosome, which causes fat to build up in the brain, passed down through families (recessive) |
| Mary Lyon - 1961 | First person to identify the inactivated X in female somatic cells |
| chromosomal number disorder | A genetic disorder caused by the presence of too many or too few chromosomes in a person's/organism's cells |
| restriction enzyme | enzymes used to cut DNA at specific points/sequences of base pairs |
| gel electrophoresis | a machine used to separate cut up pieces of DNA according to their size |
| bioinformatics | The creation, development, and operation of databases to collect, organize, and interpret data related to the genome. |
| genomics | the study of whole genomes, including genes and their functions (includes epigenetics) |
| the Human Genome Project | A 13-year project that began in 1990 by scientists around the world with the goal of sequencing the entire human genome (finding out the order of every single base pair of all 23 chromosomes pairs) |
| cutting DNA | restriction enzymes found in certain bacteria are used to cut DNA at certain points, into smaller, more manageable pieces (approx 100-200 base pairs long) |
| example of a sex-linked chromosome number disorder | Klinefelter's disorder |
| examples of sex-linked disorders | Colorblindness, Hemophilia |
| examples of autosomal disorders | Huntington's disease, Cystic Fibrosis, Tay Sach's disease, Sickle Cell disease |
| examples of autosomal trisomy disorders | Edward's syndrome, Down Syndrome |
| Sickle-cell disease | a recessive autosomal disorder caused by a defective protein that causes blood cells to be misshapen |
| Cystic Fibrosis | a recessive autosomal disorder caused by a missing amino acid in the protein that helps with the normal passage of chloride ions across the cell membrane of cells - leads to build up of mucous which clogs lungs/airways |
| Huntington's disease | a dominante autosomal disorder caused by a repeating codon (CAG sequence) which makes an ineffective protein in brain cells that causes neurological deterioration beginning around age 30-40 yrs of age |
| dominant autosomal disorder | one copy of the "bad" gene can cause the person to have the disorder |
| recessive autosomal disorder | two copies of the "bad" gene are needed to cause the person to have the disorder |
| carrier | a person who has one "bad" copy of a particular disorder on one of their chromosomes (not on both chroms of the same set) |
| Down Syndrome | also known as Trisomy 21 |
