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| Question | Answer |
| Gregor Mendel | First noticed predictable transmission of traits from parent to offspring (Used PEAS) |
| Phenotype | Expressed trait (what we can see) |
| Genotype | Unique genetic makeup that leads to phenotype |
| Chromatids | Two identical linear chromosome units (resembling an x) that separate during meiosis |
| Centromere | Point at x where two chromatids join |
| Diploid | Human chromosomes occur in pairs one from each parent, homologous (identical) but have different DNA sequences |
| Chromosomes characterized by | Total size Length of arms of x Karyotype |
| Karyotype | An individual’s chromosomal complement |
| how many of the 23 pairs of chromosomes are autosomes (homologous)? | 22 |
| Remaining pair of sex chromosomes 1/23 | Female: 2 X chromosomes (1 from each parent—homologous) Male: 1 X and 1 Y chromosome (1 from each parent—hemizygous) |
| Genotype | 23 maternal and 23 paternal chromosomes uniting at conception (46 TOTAL) |
| Meiosis | Two germ cells (egg and sperm) combine to form a cell with 46 chromosomes |
| haploid | half of diploid (23) |
| Mitosis | 2 diploid daughter cells are produced |
| Meiosis | 4 haploid cells are produced (starts with diploid) |
| Allele | versions of genes |
| Codominant | Alleles not clearly dominant or recessive |
| Monogenic traits | 1 gene loci |
| Polygenic traits | Result from interaction of several gene loci -Inheritable -Difficult to predict -Affected by environmental factors |
| Mutation | permanent change in DNA structure |
| if double stranded breaks | apoptosis and permanent loss of genetic info |
| Types of DNA mutation | Point mutation Frameshift mutation |
| Point mutation | one amino acid gets screwed up |
| Frameshift mutation | -dramatically changes genetic code -everything after the mutation happens gets screwed up |
| Mendelian Single-Gene Disorders results from | alterations or mutations of single genes |
| Pedigree | allows us to see if it’s autosomal dominant or recessive |
| Translocation | moving one piece of a chromosome to another chromosome |
| Autosomal recessive example | sickle cell disease |
| Sex-linked | typically X-linked, notice a difference between males/females. |
| who is more impacted by sex-linked medelian disorder? | men, due to only having one copy of the X chromosome |
| Aneuploidy | abnormal number of chromosomes |
| Inversion | Removal and upside-down reinsertion of a chromosome |
| Deletion | Loss of chromosomal material -ring chromosome -associated with cancer |
| Trisomy 21 is known as | down syndrome |
| down syndrome | -common - extra 21st chromosome |
| Klinefelter Syndrome | -Usually 1 extra X chromosome; sometimes more than 1 -Lack of secondary sex characteristics during puberty |
| Turner Syndrome | -UNCOMMON -1 normal X chromosome; no Y chromosome -Second X chromosome missing |
| Monosomy X | 1 normal X chromosome; no Y chromosome |
| Rarely survive birth | turner syndrome |
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