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Genetics. Review and Alterations. Terminology. Chromosome: types, number Haploid, Diploid Gene, Allele, Loci Homozygous, Heterozygous Karyotype, Phenotype, Genotype Carrier, Dominant, Recessive Nucleic Acids, Base Pairs Replication: DNA, mitosis, meiosis Protein Synthesis Transcription
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Genetics Review and Alterations
Terminology • Chromosome: types, number • Haploid, Diploid • Gene, Allele, Loci • Homozygous, Heterozygous • Karyotype, Phenotype, Genotype • Carrier, Dominant, Recessive • Nucleic Acids, Base Pairs • Replication: DNA, mitosis, meiosis • Protein Synthesis • Transcription • Translation
Gene • 1.5% of Genome • DNA base pairs (~ 100,000) • Encode a product (protein, tRNA, rRNA) • Responsible for a measurable trait • Introns • Exons
Chromosome Disorders • Chromosome Number • Euploid (2N) • Polyploid (exact multiple) • Triplody (3N) • Tetraplody (4N) • Anueploid (not exact multiple) • Trisomic (n + 1) • Autosomes • Down’s Syndrome • Sex Chromosomes • Klinefelter • Monosomic (n-1) • Sex Chromosome • Turner • Mosaics (not all cells affected) • Somatic • Gonadal
Structure Break and reassemble abnormally Inversion Translocation Insertion Deletion Duplication Chromosome Abnormalities
Deletion • 1, 2, or 3 base pairs are deleted • Frameshift reading
Duplications • Doubling section of genome • Unequal Crossing over • Multiple repeats of nucleotides
DNA section duplicated • Huntington’s • CAG repeated • Fragile X • CGG repeated • MD • CTG repeated