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Chapter 3 A. Gene function Genes and protein synthesis and mutation (diagram) B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) How proteins are made (protein synthesis): RNA Polymerase tRNA ribosomes (protein, rRNA) DNA mRNA 4 "letters” 4 "letters” transcription (in nucleus) protein 20 "letters" translation (in cytoplasm) What is a “gene?” the DNA from a part of a chromosome that “codes” for a particular product (protein) double helix nucleotides a chromosome Chromosomes have from 50 -250 Mb (Megabytes) of nucleotides 50,000,000 to 250,000,000 Review DNA Replication • DNA is double stranded • Base pairing between strands A=T C G Thymine Cytosine Adenine Guanine Review DNA Replication • DNA is unwound • DNA Polymerase finds compliment to each nucleotide and makes new strands • Two identical molecules of DNA Review DNA info nucleic acid double-stranded four nucleotides A, C, G, T base-pairing RNA info nucleic acid single-stranded four nucleotides A, C, G, U base-pairing Protein synthesis (A) •Unwind DNA •Make strand of RNA complimentary to one DNA strand •RNA Polymerase is the enzyme Protein synthesis Fig 25.8 Protein synthesis (A) •RNA produced is call mRNA (messenger) •It is produced in the nucleus •The information has been re-written from one nucleic acid “dialect” (DNA) to another (RNA) •Process is called transcription Fig 25.8 C. How proteins are made (protein synthesis): tRNA RNA Polymerase DNA 4 "letters” ribosomes (protein, rRNA) mRNA protein 4 "letters” 20 "letters" transcription translation (in nucleus) (in cytoplasm) Protein synthesis (B) •mRNA is moved to the cytoplasm •It will bind to the ribosome proteins rRNA (ribosomal RNA) Remember where the ribosomes are ? Fig 25.8 Protein synthesis (B) •tRNA carries amino acid has anticodon Fig 25.8 Protein synthesis (B) •tRNA Fig 25.10 carries amino acid has anticodon Fig 25.8 Protein synthesis (B) •tRNA The tRNA with a particular anticodon (GCU) will always carry the same amino acid. (Complimentary codon is. . . Fig 25.8 Protein synthesis (B) •tRNA The tRNA with a particular anticodon (GCU) will always carry the same amino acid. (Complimentary codon is CGA Fig 25.8 mRNA sequence Protein synthesis (B) Fig 25.8 Fig 25.6 Protein synthesis (B) •mRNA is moved to the cytoplasm •It will bind to the ribosome proteins rRNA (ribosomal RNA) Fig Fig25.12 25.8 mRNA sequence Protein synthesis (B) Fig 25.8 Fig 25.6 Protein synthesis (B) •mRNA is moved to the cytoplasm •It will bind to the ribosome proteins rRNA (ribosomal RNA) Fig Fig25.12 25.8 Fig Fig25.12 25.8 Fig Fig25.12 25.8 fig. 3-1 fig. 3-3 fig. 3-4 fig. 3-5 Review Outline 2 C. How proteins are made (protein synthesis): tRNA RNA Polymerase DNA 4 "letters” ribosomes (protein, rRNA) mRNA protein 4 "letters” 20 "letters" transcription translation (in nucleus) (in cytoplasm) If you know the DNA sequence, you can determine the mRNA sequence and can determine what order the amino acids will be arranged in the protein… Fig 25.8 Fig 25.6 If you know the DNA sequence, you can determine the mRNA sequence and can determine what order the amino acids will be arranged in the protein… …so lets make some hemoglobin. Fig 25.8 Fig 25.6 Everybody gets an job or identity Enzymes (2) (make polymers) DNA nucleotide (A=T; C=G) RNA nucleotide (A=U; C=G) tRNA (find and carry your amino acid) Amino acid (sit there and look pretty) Fig 25.8 Fig 25.6 Everybody gets an job or identity Enzymes (2) (make polymers) DNA nucleotide (A=T; C=G) RNA nucleotide (A=U; C=G) tRNA (find and carry your amino acid) Fig 25.8 Fig 25.6 Thymine Cytosine Adenine Guanine Chapter 3 A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) Identification of genes pedigrees Identification of genes pedigrees fig 3-7 DNA markers Unique place on a chromosome that can be detected with a probe. DNA markers Unique place on a chromosome that can be detected with a probe. Follow different DNA markers that fit the pedigree Pedigree = = Pedigree = disease = normal Analysis ? Define terms Define terms: N = normal n = diseased (e.g., CF) nn nn N_ N_ nn nn N_ N_ N_ N_ N_ N? N? nn nn N_ N_ N_ N_ N_ Nn Nn nn nn N_ N_ N_ N_ N_ Nn Nn nn nn N? N? N_ N_ N_ Nn Nn nn nn 8 yrs 10 yrs Kirstin Courtney N? N? N_ N_ N_ Chapter 3 A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases autosomal - on chromosomes 1-22 (not on X or Y) recessive - not dominant B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases autosomal - on chromosomes 1-22 (not on X or Y) recessive - not dominant B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases autosomal - on chromosomes 1-22 (not on X or Y) recessive - not dominant B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases CF cystic fibrosischromosome 7 defective chloride transport protein PKU defective enzyme to breakdown phenyalanine B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases CF cystic fibrosischromosome 7 defective chloride transport protein PKU defective enzyme to breakdown phenyalanine B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases CF cystic fibrosischromosome 7 defective chloride transport protein PKU defective enzyme to breakdown phenyalanine Albinism defective enzyme for making pigment fig 3-10 B. Genetic diseases Diseases (PKU, Albinism, CF, Huntington Disease, DMD) autosomal recessive human diseases CF cystic fibrosischromosome 7 defective chloride transport protein PKU defective enzyme to breakdown phenyalanine Albinism defective enzyme for making pigment Tay Sachs missing Hex A enzyme, ganglioside accumulates Autosomal Dominant Diseases • Huntington Disease • Myotonic Dystrophy Autosomal Dominant Diseases Chapter 3 A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) X-linked recessive Chapter 3 A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) Chapter 3 C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymerase chain reaction) Eugenics (positive/negative) Chapter 3 C. Use/Misuse of genetic information Genetic tests ? Chapter 3 C. Use/Misuse of genetic information Genetic tests It is possible to test for many different genetic diseases. Is it “right” to do so? Who pays (it’s expensive)? Chapter 3 C. Use/Misuse of genetic information Genetic tests Prenatal testing Amniocentesis Chorionic villi sampling PCR (polymerase chain reaction) Eugenics (positive/negative) Fig 3-11 fig 3-11 Chapter 3 C. Use/Misuse of genetic information Genetic tests Prenatal testing If you found out an unborn child had a genetic disease what would you do? PCR (polymerase chain reaction) Eugenics (positive/negative) Chapter 3 C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymerase chain reaction) a technique used to examine very small samples fig 3-12 Chapter 3 A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (PKU, Albinism, CF, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing PCR (polymnerase chain reaction) Eugenics (positive/negative) Eugenics “good birth” Individuals have genetic identity genotype Populations have genetic identity gene pool Eugenics is working to change the gene pool Positive use the “best” to breed (cattle, plants) Negative prevent “inferior” genes from passing on Eugenics “good birth” Individuals have genetic identity genotype Populations have genetic identity gene pool Eugenics is working to change the gene pool Positive use the “best” to breed (cattle, plants) Negative prevent “inferior” genes from passing on Eugenics “good birth” Individuals have genetic identity genotype Populations have genetic identity gene pool Eugenics is working to change the gene pool Is it right?
