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MEIOSIS SEXUAL REPRODUCTION • A combination of the genetic material of two separate individuals • Humans have 46 chromosomes - 23 pairs • Humans reproduce by joining sperm and egg from two parents • If sperm and egg each had 46 chromosomes, the baby would have 92 • Therefore----- meiosis is the production of gametes (sperm or eggs) with only 23 • Meiosis has the same stages as mitosis, but repeated twice each – end result- four haploid cells (23 chromosomes each). 46 chromosomes = diploid cell. • Meiosis compared to mitosis • All chromosomes in a cell have numbers – 1-22 pairs • Sex chromosomes make the total 23 • They all come in pairs, paternal and maternal • Therefore, you received one #1 chromosome from your Mom and the other from your Dad. • Each cell MUST have one #1 chromosome and one #2 chromosome and so on. No more or less than 1. • Therefore, during meiosis metaphase 1, homologous pairs match up. The homologous chromosomes are separated at anaphase 1. • Each resulting sperm or egg can have paternal OR maternal #1 chromosome, paternal or maternal chromosome #2, etc. • This is known as independent assortment. • While the homologous pairs are matched in metaphase 1, they can trade pieces of DNA = crossing over • This creates lots of genetic variation (good for the human species) • Crossing over only occurs in meiosis Nondisjunction NONDISJUCTION – change in chromosome # • Error in Meiosis • Homologous chromosomes fail to separate • Leads to abnormal chromosome # (aneuploidy) – Down syndrome: trisomy 21 • • • • Characteristic facial features Heart defects, mental retardation 1/700 births Incidence rises with mother’s age – Non disjunction of sex chromosomes • Turner’s syndrome, only one X chromosome • Female, short stature, sexually immature – Klinefelter’s syndrome, XXY • Male, testosterone deficient, sterile Mendelian genetics • Genotype (genes), Phenotype, and alleles of a specific gene • Capital letters for dominate alleles • Lowercase letters for recessive alleles • Every person has two alleles for each trait • Gametes have only one allele for each trait • Genotype of recessive phenotype is known (rr) • Genotype of dominant phenotype: two possible – 1. homozygous dominant (RR), 2. Heterozygous (Rr) • Test-cross determines genotype of dominant phenotype – RR X Rr – Punnett square • Humans not test-crossed, but can look at ancestors • Cystic fibrosis: recessive, absence of protein causes chloride ion channels to malfunction – CC, Cc, cc • Carrier: unaffected, but can pass recessive allele to offspring • Do example genetics problems on handout • Blood types – multiple alleles – A,O,B • Sex linked genes – on X&Y chromosomes • Male (Y) chromosome all alleles expressed • Colorblindness example: carrier mother gives defective allele to half her sons and half her daughters Amniocentesis • Karyotype shows any chromosomal abnormalities