Medical Genetics Flashcards
Genome
Organism’s DNA content
4 distinguishing structures of a Chromosome
p arm (Short), q arm (long), Centromere, Telomere
Genes
sequences of base pairs–>encode info for proteins
Exon: Coding sequence
Intron: Non-coding sequence between 2 exons
Chromosome & Genes
Locus: Location on gene or genetic marker
Alleles: Alternative forms of a gene/genetic marker
Haplotype: Series of alleles on a single chromosome
Mitosis
Cell division of a somatic cell
Diploid cell = Diploid cell
NO recombination
Meiosis
Gamete formation
Diploid cell = 4 haploid gametes
Recombination is frequent (exchange of genetic material between same chromosomes)
Meiosis I & II
Steps in Meiosis (I Pee Mostly Around Telephone Cars)
- Interphase, 2. Prophase, 3. Metaphase, 4. Anaphase, 5. Telophase, 6. Cytokinesis
Prophase I (5) phases
Chromosomes Begin to condense
- Leptotene-Chrom. condense
- Zygotene- Same Chrom. Closely assoc.(synapsis) to form pairs of chromo. (bivalent), made up of 4 chromatids (tertrads)
- Pachytene- Crossing over between pair same chromo.to make Chiasmata (cross shaped)
- Diplotene- Same Chromo. start to sep. BUT remain attached to Chiasmata
- Diakinesis- Same Chromo. cont. to sep. & chiasmata moves to telomeres