HUMAN GENETICS

 

I. Basic Terms

      A. Gene/ allele

      B. Homologous chromosomes/ autosomal chromosomes/ sex chromosomes

      C. Crossing over/ genetic recombination/ genetic variability

      D. Karyotype

II. Gene location

      A. Linkage group-->genes on the same chromosome

      B. Sex-linked traits

      C. Recombination and mapping

III. Human genetic analysis

      A. Pedigree

      B. Autosomal recessive--Tay-Sachs

      C. Autosomal dominant--achondroplastic dwarfism

      D. Sex-linked recessive trait--male pattern baldness

      E. Aneuploidy due to nondisjunction

            1. Down’s Syndrome--Trisomy 21

            2. Turner’s Syndrome--XO

            3. Kleinfelter’s Syndrome--XXY

            4. “Supermale”--XYY

      F. Chromosome aberrations--deletion, duplication, inversion, translocation