scientific basis of genetics janice s. dorman, phd university of pittsburgh school of nursing

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

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Page 1: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

Scientific Basis of Genetics

Janice S. Dorman, PhDUniversity of Pittsburgh

School of Nursing

Page 2: 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

Page 3: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

Lesson One

Cell Cycle

Page 4: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 5: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

Mitosis Somatic cells divide by mitosis

– Involves 1 cell cycle / division

Parental and 2 daughter cells are genetically identical

Parental cells are diploid (46 chromosomes)

2 daughter cells are diploid (46 chromosomes)

Page 6: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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)

Page 7: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

The stages of meiosis in an animal cell

Page 8: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

The stages of meiosis in an animal cell

Recombination occurs here

Page 9: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

The stages of meiosis in an animal cell

Page 10: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

Lesson Two

Chromosomes

Page 11: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 12: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 13: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 14: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 15: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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)

Page 16: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 17: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 18: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 19: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

Lesson Three

DNA (Deoxyribonucleic Acid) and

RNA (Ribonucleic Acid)

Page 20: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 21: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 22: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 23: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 24: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

3’ end

5’ end

Page 25: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 26: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

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

Page 27: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 28: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

3’ end 5’ end

Page 29: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing
Page 30: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing

DNA ReplicationUncoil 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 StrandOther Strand is the Lagging Strand

Page 31: Scientific Basis of Genetics Janice S. Dorman, PhD University of Pittsburgh School of Nursing