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Topic 3.1: Genes ** Make sure you are familiar with all the understanding statements on pg. 141 of your text book. **Be able to respond to the applications on pg. 141 Key facts 1. Locus refers to a particular position on a chromosome. 2. A gene is a section of DNA that controls a specific characteristic in an organism. 3. An allele is a specific form of a gene, differing from other alleles by one or more base differences in the DNA sequence. 4. Different alleles for the same gene all occupy the same locus on a chromosome. 5. Genome refers to the whole or complete genetic information of an organism. 6. When genes change in an organism, a mutation is said to have occurred. 7. A mutation involves a base change in a gene, sequence of DNA. 8. Base substitution is the simplest type of mutation in which one base in a gene is replaced by another. 9. An example of a disease caused by a base substitution mutation in humans is sickle cell anemia. 10. Natural selection has maintained the sickle cell allele because when it occurs singly, it results in malaria immunity. It is only when the sickle cell allele occurs with another that the actual disease of sickle cell anemia occurs. 11. The Human Genome Project sequenced the entire human genome and found there to be 25000 to 30000 genes. Not only did the project strive to find the total genes but it attempted to find each gene’s location and each gene’s base sequence. 12. Benefits of the Human Genome Project include the ability to study how genes influence human development, the easier identification of genetic diseases, and eventually, the production of medicines specifically engineered to an individuals needs. It may also give new insights into the origins, evolution and migrations of humans. Complete the following. 1. What is the difference between a gene and an allele? 2. Draw and label a chromosome. Annotate by labeling the centromere and indicating a locus. 3. What is the total genetic composition of an organism called? 4. How is the disease known as sickle cell anemia thought to have originated? 5. Why would the allele which is the cause of sickle cell anemia still exist today after thousands of years when it may produce a potentially fatal disease? 6. What are the benefits of the Human Genome Project?