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HUMAN GENOME PROJECT HOW DOES DNA ORGANIZE ITSELF INTO A CHROMOSOME? a. DNA is a double helix molecule. b. DNA coils around proteins called histones (similar to spools of thread). c. DNA supercoils itself (like a telephone cord). d. DNA is then organized into 2 sister chromatids connected together at the centromere. WHAT IS THE HUMAN GENOME PROJECT? From 1990 to 2003, scientists from the National Institutes of Health and the U.S. Department of Energy worked together to… determine the sequence of the 3 billion chemical base pairs that make up human DNA identify all of the 20,000 to 25,000 genes in human DNA store this information in databases address the ethical, legal and social issues that arise from this project WHY IS THE HUMAN GENOME PROJECT IMPORTANT? to compare human sequences with other species to provide insight into human embryonic development and genetic relationships to identify genes associated with diseases to develop of treatments and preventions for genetic disorders FUN FACTS ABOUT THE HUMAN GENOME The human genome contains about 3 billion chemical nucleotide bases (A, C, T, and G). The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases. Chromosome Poster Chromosome 1 has the most genes (2968), and the Y chromosome has the fewest (231). The total number of genes is estimated at 20,000 to 25, 000 Almost all (99.9%) nucleotide bases are exactly the same in all people. The functions are unknown for over 50% of discovered genes. Can you make a relationship between the number of chromosomes and the complexity of an organism? Why or why not? TRISOMY 21: DOWNS SYNDROME How do you think this individual inherited an extra chromosome? HINT: Think about meiosis! HOW CAN CHROMOSOMES BE DAMAGED? Nondisjunction – a pair of homologous chromosomes or sister chromatids fail to separate during meiosis. i.e. Downs syndrome Duplication- part of a chromosome is repeated. Deletion- part of a chromosome is lost Inversion- part of chromosome is reversed Translocation- part of chromosome attaches to a non homologous chromosome WHAT KIND OF INFORMATION IS PROVIDED IN A PEDIGREE? A pedigree is a family tree that records and traces the occurrence of a trait in a family. It can determine whether a trait is inherited. It shows how a trait is passed from one generation to the next. It can determine if an allele is dominant or not. HEMOPHILIA: THE ROYAL DISEASE What is the inheritance pattern for hemophilia? How does a pedigree enable you to determine it? HOW ARE GENETIC DISORDERS INHERITED? An individual with one copy of a recessive allele is called a carrier. Since most genetic disorders are recessive, they are self limiting. Males more commonly exhibit sex linked traits because they only need one recessive allele located on the X chromosome.