The Human Genome Chapter 14

Human Heredity polygenic trait - trait controlled by two or more genes Pedigree - chart that shows the relationships within a family Autosome - autosomal chromosome; chromosome that is not a sex chromosome sex chromosome - one of two chromosomes that determine an individual's sex; females have two X chromosomes; males have one X chromosome and one Y chromosome Karyotype - set of photographs of chromosomes grouped in order in pairs

Human Genome Chromosomes 21 and 22 are the smallest human autosomes. Chromosome 22 contains approximately 43 million DNA bases. 22 contains as many as 545 different genes includes an allele that causes a form of leukemia Chromosome 21 contains roughly 32 million bases. 225 genes, including one associated with ALS

Karyotype Making a Karyotype Photograph chromosomes during mitosis Cut chromosomes out of photograph Group them in order, in pairs Male 46XY Female 46XX

Determining Sex All egg cells carry a single X chromosome (23X). However, half of all sperm cells carry an X chromosome (23X) and half carry a Y chromosome (23Y). This ensures that just about half of the zygotes will be 46XX and half will be 46XY.

Determining Sex Through Pedigrees

Determining a Disorder through Pedigrees

Determining a Disorder through Pedigrees

Human Genes Blood Group Genes Rh+ and Rh- (Rhesus factor)

X-Chromosome Inactivation Females have two X chromosomes, but males have only one. Females can inactivate parts of an X chromosome and use the same genetic information from the corresponding chromosome Spotted Cats Barr Bodies

Gene to Molecule In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single gene affects the structure of a protein, causing a serious genetic disorder. Phenolketoneuria - PKU is the actual lack of a certain enzyme that breaks down the amino acid phenylalanine.

Cystic Fibrosis

Autosomal Disorders Genes for these disorders are located on autosomes Recessive disorder Dominant disorders Codominant disorders

Sex-Linked Genes Males have just one X chromosome. Thus, all X-linked alleles are expressed in males, even if they are recessive.

Sex-Linked Disorders Colorblindness Hemophelia Duchenne Muscular Dystrophy

Chromosomal Disorders Nondisjunction - error in meiosis in which homologous chromosomes fail to separate

Down Syndrome

Down Syndrome Trisomy 21 An extra chromosome on autosome 21 47 chromosomes instead of 46 United States, approximately 1 baby in 800 is born with Down syndrome mild to severe mental retardation. It is also characterized by an increased susceptibility to many diseases

Sex-Chromosome Disorders Turner’s syndrome (X-) Women with Turner’s syndrome are sterile because their sex organs do not develop at puberty

Sex-Chromosome Disorders Klinefelter’s syndrome - Males (XXY; XXXY…) Unable to reproduce Large hips Lower testosterone Gynecomastia What if there was just a Y chromosome?

Complete Study Guide Workbook Chapter 14 Genetic Engineering Human Heredity HW Read 14-3 and Complete Study Guide Workbook Chapter 14

Selective Breeding Humans use selective breeding to pass desired traits on to the next generation of organisms Hybridization – The crossing of dissimilar individuals to bring together the best of both organisms. Luther Burbank and his amazing Burbank potato. Inbreeding is the continued breeding of individuals with similar characteristics.

Increasing Variation Mutations can be induced to help create variation in organisms. Polyploidy plants have an extra chromosome.

Perform your own Gel Electrophoresis Go to this website to perform your gel electrophoresis http://gslc.genetics.utah.edu/units/biotech/gel/ Once you understand the process, use your DNA detective skills to help solve a mystery. http://www.pbs.org/wgbh/nova/sheppard/analyze.html Or google NOVA DNA Fingerprint NOVA Online | Killer's Trail | Create a DNA Fingerprint

Manipulating DNA Genetic Engineering is the process of reading and changing DNA sequences in an organism. Reading the Genetic Code DNA extraction Cutting and Labeling DNA Separating DNA Reading the DNA sequence Making Copies (PCR – polymerase chain reaction)

Manipulating DNA Genetic Engineering is the process of reading and changing DNA sequences in an organism. Reading the Genetic Code DNA extraction Cutting and Labeling DNA Separating DNA Reading the DNA sequence Making Copies (PCR – polymerase chain reaction)

Manipulating DNA Genetic Engineering is the process of reading and changing DNA sequences in an organism. Reading the Genetic Code DNA extraction Cutting and Labeling DNA Separating DNA Reading the DNA sequence Making Copies (PCR – polymerase chain reaction)

Manipulating DNA Genetic Engineering is the process of reading and changing DNA sequences in an organism. Reading the Genetic Code DNA extraction Cutting and Labeling DNA Separating DNA Reading the DNA sequence Making Copies (PCR – polymerase chain reaction)

PCR – Polymerase Chain Reaction Making copies to work with.

Uses of Gel Electrophoresis DNA Fingerprinting An individual's DNA is as distinctive as a fingerprint. This technique was used to assist in determining O.J. Simpson's life. DNA samples can be obtained from the trace amounts of blood or sperm. These DNA samples can be separated using gel electrophoresis. The number and position of bands formed on each lane of gel is the actual genetic "fingerprint" of that DNA sample. The characteristics of certain segments of DNA vary from person to person and form a highly individual, detectable "genetic fingerprint." Developed only in the mid-1980s, genetic fingerprinting has rapidly become a widely used courtroom tool. In 1988 the first person in the United States was executed based on DNA technology. The Human Genome Project The most ambitious research project made possible by DNA technology is the effort to map the entire human genome.

DNA Fingerprinting

Vocab Plasmid - circular DNA molecule found in bacteria genetic marker - gene that makes it possible to distinguish bacteria that carry a plasmid with foreign DNA from those that don’t Recombinant DNA – DNA that has been created artificially. DNA from two or more sources is incorporated into a single recombinant molecule.

Transforming Bacteria

Transforming Plants

Transforming Animal Cells Can be transformed similar to plants. Some eggs are large enough to physically inject new DNA by hand. Which can “Knock Out” a gene

Homework Find two transgenic organism on the internet. Type up a summary about the organisms What are they? How are they made? How are they useful? Or Why were they created? Answer the big question on “Dolly” Why was she so special?

Do Now…. How is genetic engineering like computer programming? How does gel electrophoresis work? What is transformation? How can you tell if a transformation experiment has been successful? Compare the transformation of a prokaryotic cell with the transformation of a eukaryotic cell.

Transgenic Organisms term used to refer to an organism that contains genes from other organisms

Transgenic Organisms Transgenic Bacteria Transgenic Plants Transgenic animals Produce clotting factors insulin HGH Stronger plants More production Pest resistance

Cloning member of a population of genetically identical organisms produced from a single cell

“Dolly” “Dolly” was an important break through not just because she was a mammal. Frogs were cloned back in 1950’s Why was dolly so special? Research and answer this question for me.

Human Genome Project The Human Genome Project is an attempt to sequence all human DNA.