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Loci and the Human Karyotype

Loci and the Human Karyotype. Biology Unit 6 2014-2015. Chromosomes. Karyotype: ordered display of an individual ’ s chromosomes. Collection of chromosomes from mitotic cells. Staining can reveal visible band patterns, gross anomalies. Karyotyping.

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Loci and the Human Karyotype

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  1. Loci and the Human Karyotype Biology Unit 6 2014-2015

  2. Chromosomes • Karyotype: • ordered display of an individual’s chromosomes. • Collection of chromosomes from mitotic cells. • Staining can reveal visible band patterns, gross anomalies.

  3. Karyotyping Meiosis KM

  4. Karyotypes arrange chromosomes in order by size: Largest to smallest

  5. Chromosomes Some large like #1 Some small like #22

  6. Same Length Centromere in same location Same bands (genes) Homologous pairs

  7. Centromere Position • The centromere is not exactly in the center of the chromosome • “p” arm: (p=petite) the shorter arm of the chromosome • “q” arm: the longer arm of the chromosome

  8. Locus (plural=loci) • The position that a given gene occupies on a chromosome. (Its like an address for your genes) • Written like this: 15p23

  9. Example: 15p23=Chrom 15 small arm, 23rd band from the centromere

  10. *Having 3 chromosomes of each kind instead of 2*Normally trisomy results in death. Trisomy: 1 Example

  11. Down Syndrome: a genetic condition in which the individual has 3 copies of the 21st chromosome. Genotype: 3 copies of 21st chromosome

  12. Lt Olive S = Dark s= Light SSSS= Dark SSSs= Fairly Dark SSss= Olive Ssss = Light Olive ssss = Lightest White Skin Color Polygenic 2p18 2q21 Ssss 2 S s s s

  13. 4p20 4 A=Acne a=No Acne Aa Some Acne Acne Polygenic Incomplete Dominance AA=Lots Aa=some aa= none A a

  14. N = Cleft n= no cleft 4 Cleft Chin Regular Dominance 4p19 nn No Cleft n n

  15. 7 Eye color Incomplete Dominance 7p15 B=Brown b=Blue Light Brown Bb BB=Brown Bb=Light Brown, Hazel, Green bb=blue B b

  16. Hair Color Incomplete Dominance 7p11 H=Brown/Black h=blonde Hh Light Brown 7 HH=Brown/Black Hh=Light Brown hh=Blonde H h

  17. 7 Cystic Fibrosis Autosomal recessive 7q25 No CF F = No CF f = CF FF F F

  18. 7q11 Acne Polygenic Incomplete Dominance 7 A= Acne a = no Acne Some acne Aa A a

  19. IA=A IB=B i=O Blood Type A & B Codom. O=Recessive 9 9q34 ii o i i

  20. 9 Rh Factor Normal Dominance 9q30 R = +Rh r = - Rh Rr Rh+ R r

  21. Freckles Normal Dominance 12p5 F = Freckles f= no freckles 12 ff No Freckles f f

  22. Hair Type Incomplete Dominance 12q24 CC= Curly cc = Straight Cc=Wavy 12 cc Straight C C

  23. Tay-Sachs Autosomal recessive 15q23 T = No TS t = TS No TS 15 TT T T

  24. 16 Dimples Normal Dominance 16p10 Dd D=Dimples d = No Dimples Dimples D d

  25. XBY XAY B= Not Colorblind b = Colorblind 23 Color Blind Hemophilia A= No Hemophilia a = Hemophilia B A

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