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Human Genetics

Human Genetics. Gregor Mendel- father of genetics. Mendel’s Methods. Monohybrid crosses - an experimental cross between individuals that differ by a single trait. First generation (F 1 ). Mendel’s F 1 Observations. One of the traits could be seen in the F 1 generation= Dominant

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Human Genetics

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  1. Human Genetics

  2. Gregor Mendel- father of genetics

  3. Mendel’s Methods • Monohybridcrosses- an experimental cross between individuals that differ by a single trait. • First generation (F1).

  4. Mendel’s F1 Observations • One of the traits could be seen in the F1 generation= Dominant • One of the traits was hidden in the F1 generation= Recessive 100% Purple

  5. Genetic Terminology #1 • Phenotype- an organisms traits. • Genotype- an organisms genetic makeup. • Homozygous- identical alleles for a gene. • Heterozygous- two different alleles for a gene.

  6. Genetic Terminology #2 • Gene- a sequence of DNA that codes for a protein. • Locus- the position on a chromosome occupied by a gene. • Allele- one of 2 or more alternative forms of the same gene. W w

  7. Mendel’s F2Observations • Flower color • Purple:white 705:224 3:1

  8. Mendel’s Dihybrid Cross • 315:108:101:32 = 9:3:3:1

  9. Mendel’s Work Yielded These Genetic Rules • Alternative versions of genes (different alleles) account for variations in inherited characters. • For each character, an organism inherits two alleles, 1 from the mother and 1 from the father. • If two alleles differ, then one, the dominant allele is fully apparent in the organism’s appearance. • The two alleles for each trait segregate during gamete production. • Alleles of a gene segregate independently of the alleles of other genes.

  10. THO1 THO1

  11. Punnett Square • Punnett square- a diagram used to predict the result of a genetic cross.

  12. Complete Dominance • The dominant allele produces a functional protein and the protein’s effects are apparent. • The recessive allele produces a less functional protein or none at all and the trait is not apparent.

  13. Codominance- blood types • Codominance- the effects of both alleles are apparent.

  14. IncompleteDominance

  15. Incomplete Dominance • Incomplete dominance- inheritance in which the F1 is intermediate in phenotype between the parents. • Neither allele is dominant.

  16. Continuous Variation

  17. Continuous Variation is the result of Polygenic Inheritance • Continuous variation- a gradation in phenotype; indicates that a trait is controlled by two or more genes.

  18. Eye Color

  19. Linkage • Linkage- the tendency for certain genes to be inherited together because they are in close proximity on the same chromosome. • Linked genes- genes that are inherited together.

  20. Position of Forensic STR Markers on Human Chromosomes TPOX D3S1358 TH01 D8S1179 D5S818 VWA FGA D7S820 CSF1PO AMEL Sex-typing D13S317 AMEL D16S539 D18S51 D21S11 13 CODIS Core STR Loci

  21. AmpFlSTR® Identifiler™ D8S1179 D7S820 D21S11 CSF1PO TH01 D3S1358 D13S317 D16S539 D2S1338 TPOX D18S51 D19S433 VWA AMEL D5S818 FGA GS500 LIZ size standard 6FAM (blue) VIC (green) NED (yellow) PET (red) LIZ (orange)

  22. Allelic Ladders D8S1179 D7S820 CSF1PO D21S11 D2S1338 D3S1358 TH01 D13S317 D16S539 D19S433 VWA TPOX D18S51 FGA AMEL D5S818

  23. Paternity

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