Questão | Responda |
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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