Pt1420 Exercise 1

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1. What is the genome? The genome is an organism’s complete set of DNA and vary widely in size.

2. How many chromosomes are found in human cells? There are 46 chromosomes arranged into 23 pairs found in human cells.

3. What is a gene? Genes are the basic physical and functional units of heredity. Genes are specific sequences of bases that encode instructions on how to make proteins.

4. How much of the human genome is composed of genes? What is the rest made up of? Genes comprise only about 2% of the human genome. That means that the human genome is estimated to contain some 25,000 genes. The remainder consists of noncoding regions, whose functions may include providing chromosomal structural integrity and regulating where, when,
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18. Name three diseases that can be tested for. Most current tests detect mutations associated with rare genetic disorders that follow Mendelian inheritance patterns. These include myotonic and Duchenne muscular dystrophies, cystic fibrosis, neurofibromatosis type 1, sickle cell anemia, and Huntington’s disease.

19. Describe two limitations of genetic testing. Some scientific limitations are that the tests may not detect every mutation associated with a particular condition, and the ones they do detect may present different risks to various people and populations. Another important consideration in gene testing is the lack of effective treatments or preventive measures for many diseases and conditions now being diagnosed or predicted.

20. Name two types of professionals that specialize in diagnosing and explaining genetic disorders.
Families and individuals who have genetic disorders or are at risk for them often seek help from either medical geneticists (an M.D. specialty) or genetic counselors (graduate-degree

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