Goals of The Human Genome Project

Goals of The Human Genome Project

Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing Lessons Cell

cycle Chromosomes DNA and RNA Structure of a gene Transcription

Translation Mutations Lesson One Cell Cycle Mitosis Somatic

cells divide by mitosis Involves 1 cell cycle / division Parental and 2 daughter cells are

genetically identical Parental cells are diploid chromosomes) 2

daughter cells are diploid (46 chromosomes) (4 Meiosis

Germ cell precursors (parental cells) divide by meiosis Involves 2 cell cycles / divisions instead of 1 Germ cells precursors and 4 gametes

(daughter cells either egg or sperm) are NOT genetically identical Germ cell precursors are diploid (46 chromosomes)

4 gametes are haploid (23 chromosomes) The stages of meiosis in an animal cell Recombination occurs here

The stages of meiosis in an animal cell The stages of meiosis in an animal cell Lesson Two Chromosomes

Chromosome Structure Chromosomes have 2 arms that are separated by the centromere: p arm for petite q arm long arm

Ends of chromosomes are called telomeres Chromosome Types Autosomes:

the numbered chromosomes All individuals have 2 copies of each type of autosome (homologous chromosomes 1 maternal, 1 paternal) Sex

chromosomes: the X and Y chromosomes All individuals have 2 sex chromosomes XX = female XY = male Karyotype

An organized picture of the chromosomes found in a cell Captured during mitosis, just before cell divides Generally demonstrates the normal

complement of chromosomes 46,XX for females and 46,XY for males Can point out gross chromosomal abnormalities (such as extra or missing chromosomes)

Lesson Three DNA (Deoxyribonucleic Acid) and RNA (Ribonucleic Acid) Components of DNA / RNA

Phosphate group Sugar group Deoxyribose in DNA

Ribose in RNA Bases Adenine, guanine, cytosine, thymine in DNA Adenine, guanine, cytosine, uracil in RNA

RNA Structure RNA is generally single stranded Can fold and create complicated structure

Multiple types of RNA, each with a different function Sugar-phosphate groups form the backbone of the molecule Nucleotides are organized 5 to 3

Bases form the center of the molecule 5 end 3 end

Double stranded RNA: Possible secondary structures of RNA molecules. The double-stranded regions are depicted by connecting hydrogen bonds. Loops are noncomplementary regions that are not hydrogen bonded with complementary bases. Double-stranded RNA structures can form within a single RNA molecule or between two separate RNA molecules

DNA Structure DNA is a double helix

Sugar-phosphate groups form the backbone Two DNA strands are anti-parallel One strand, nucleotides are organized 5 to 3 Other strand, nucleotides are organized 3 to 5

Bases are held together by hydrogen bonds and are complementary A is complementary to T C is complementary to G

3 end 5 end DNA Replication Uncoil DNA Strand Separation

Templates are Single Stranded RNA Primers Needed For New Strands Both DNA Strands Extended From the RNA Primer (5 to 3)

One Strand is the Leading Strand Other Strand is the Lagging Strand

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