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Human Chromosomes and Genes

Human Chromosomes and Genes. Sanjaya Adikari Department of Anatomy. DNA. DNA is the genetic material DNA is organized into chromosomes. Chromosomes. DNA histone proteins non-histone proteins. chromatin. chromosome. chromatids. short arm (p). cell division. centromere. long arm (q).

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Human Chromosomes and Genes

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  1. Human Chromosomes and Genes SanjayaAdikari Department of Anatomy

  2. DNA • DNA is the genetic material • DNA is organized into chromosomes

  3. Chromosomes DNA histone proteins non-histone proteins chromatin chromosome

  4. chromatids short arm (p) cell division centromere long arm (q) telomere Chromosomes….

  5. Autosomes and sex chromosomes • Total of 46 chromosomes • 23 pairs of chromosomes • 22 pairs of autosomes • 1 pair of sex chromosomes, XX or XY

  6. Karyotype • Chromosome constitution of a cell • Normal male 46,XY • Normal female 46,XX

  7. Karyograph Karyotyping

  8. Homologous pair Karyograph

  9. 1 2 3 4 5 6 diploid haploid Haploid and diploid

  10. in meiosis, gametes Somatic cell diploid haploid

  11. Genes • Gene is a sequence of DNA coding for a polypeptide

  12. Exon 1 Intron 1 genes Exon 2 non coding regions Intron 2 Exon 3 Intron 3 Exon 4 Gene chromosome

  13. Homologous pair Genes residing at the same level of the homologous pair of chromosomes are called alleles Alleles are in the same locus Locus A A Locus and alleles

  14. Homozygous and heterozygous AA aa Homozygous Aa AB Heterozygous

  15. Recessive and dominant characters Dominant characters are expressed in the heterozygote* Recessive characters are expressed only in the homozygote# T t * heterozygote=person with heterozygous genotype #homozygote=person with homozygous genotype

  16. TT => tall Tt => tall tt => short ‘Tall’ is the dominant character ‘Short’ is the recessive character

  17. Blood groups ABO group-A group- B group-AB group-O AA AO BB BO AB OO Locus A A Genetic polymorphism

  18. References • Emery’s Elements of Medical genetics. Robert F. Mueller and Ian D. Young Medical Library Class No. 616.042 • Medical Genetics: An illustrated outline. Andrew Read Medical Library Class No. 616.042 • Web sites http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Chromosomes.html http://www.csu.edu.au/faculty/health/biomed/subjects/molbol/DNAstruc.htm http://gslc.genetics.utah.edu/units/disorders/karyotype/karyotype.cfm http://homepages.which.net/~gk.sherman/baaaaabz.htm http://www.eurekah.com/abstract.php?chapid=1777&bookid=118&catid=19

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