Ch 18: Basics of Human Genetics
About This Chapter
Basics of Human Genetics - Chapter Summary
This chapter contains several lessons focusing on genetic patterns, disorders and research methodologies. You will study topics such as sex chromosomes, genetic testing, genetic inheritance and genetic variability. Each lesson offers detailed definitions, illustrations and examples to help simplify what might be complex information. After completing your study of this chapter, you should be able to:
- Explain research methods used in the study of human genetics
- Detail information about pedigree analysis
- Identify and define specific genetic disorders and diseases
- Provide details about tumor suppressor genes
- Relate the symptoms of Huntington's Disease, Tay-Sachs Disease and hemophilia
- Understand the workings of postnatal and prenatal genetic testing
- Discuss genetic risk factors for cancer
- Describe types of sex chromosomes
- Explain the complexity of human heart disease
- Define gametes and genetic drift
Experienced instructors have backgrounds in such areas as biology and physical science and make this material easy to understand. Lessons are easily accessible from any device, at any time, and transcripts are printable so you can create helpful reference tools. Take self-assessment quizzes to help you determine how much you know and whether you need further review in any area.
1. Human Genetics Research Methods: Pedigrees and Population Genetics
Have you ever wondered how people study human genetics? Do you know what a pedigree or a complex disease is? In this lesson you'll learn about some of the techniques that human geneticists use and what pedigrees and complex diseases have to do with human genetics.
2. Pedigree Analysis in Human Genetics: Tutorial
One of the oldest genetic techniques is pedigree analysis, and yet it is still used every day all around the world by doctors, geneticists, and genetic counselors. Building and reading a pedigree is actually fairly easy if you know what the symbols mean. In fact, it's so easy that you can learn how to do it in less than ten minutes if you watch this video!
3. Pedigree Analysis in Human Genetics: Inheritance Patterns
So you've learned what a pedigree is and how to read or even create one. Now you're ready to learn how to analyze a pedigree and figure out what kind of inheritance pattern a genetic condition follows!
4. Genetic Disorders: Penetrance & Phenotypic Variability
Did you know that sometimes a dominant human genetic condition will skip a generation in a family? It does happen, and some dominant genetic conditions will also have a wide range of phenotypes, sometimes even within the same family. Learn more in this lesson about phenotypic variability!
5. What Is Tay-Sachs Disease? - Symptoms and Genetic Cause
Tay-Sachs is a devastating genetic disorder that is seen in infants starting when they are only three to six months old. Children who suffer from this disease usually die by the age of four. Learn more about the symptoms and genetic causes of this autosomal recessive disorder.
6. Haplosufficient Genes and Inheritance Patterns of Lethal Alleles
Have you ever wondered why some genetic conditions are recessive while others are dominant? In this lesson, you'll learn about haplosufficiency and how it can sometimes determine whether a genetic condition is dominant or recessive.
7. What Is Hemophilia? - Symptoms, Genetic Cause & Treatment
In this lesson, you'll learn about a group of hereditary bleeding disorders collectively known as hemophilia. You'll learn why afflicted people don't form blood clots and why most hemophiliacs are males.
8. What Is Huntington's Disease? - Symptoms, Genetic Cause & Treatment
In this lesson, you'll learn about a neurodegenerative disorder called Huntington's disease. You'll learn what a CAG repeat is, and how the number of these repeats can be used to predict whether or not a person will get Huntington's disease.
9. Tumor Suppressor Genes: Retinoblastoma Features, Genetic Cause & Treatment
In this lesson, you'll learn about retinoblastoma, which is a rare childhood cancer of the retina. Retinoblastoma is often inherited in an autosomal dominant fashion. Find out why retinoblastoma and other types of hereditary cancers are caused by dominant alleles by watching this lesson.
10. Cancer Syndromes & Genetic Risk Factors for Cancer
This lesson describes something called cancer syndrome or family cancer syndrome, as well as the important clues that can help it be detected and two examples of such a condition.
11. Sex Determination, X-Inactivation, and Barr Bodies
Sex determination, X-inactivation and Barr bodies are complex chromosomal processes. Learn more about each of these processes and test your knowledge with a quiz.
12. Turner Syndrome and Trisomy X: Types of Sex Chromosome Aneuploidy
Most females have two X chromosomes, which is what makes them women. But what happens when there are more or less than two X chromosomes in a woman's DNA? In this lesson, we'll explore Turner syndrome and Trisomy X.
13. Klinefelter and XYY Syndrome: Types of Sex Chromosome Aneuploidy
Most boys and men have two sex chromosomes. But what happens when a male has more than two sex chromosomes? In this lesson, we'll explore two examples of male aneuploidy: Klinefelter Syndrome and XYY Syndrome.
14. How Prenatal and Postnatal Genetic Testing Works
Have you ever wondered why pregnant women have so many doctor visits and need so many tests done? Learn more about how prenatal and postnatal genetic testing works and test your knowledge with a quiz.
15. Why Heart Disease is a Complex Human Disease
Many diseases and conditions contribute to heart disease. This makes heart disease very complex and sometimes difficult to treat. Learn more about heart disease and test your knowledge with a quiz.
16. Gametes: Definition, Formation & Fusion
Gametes are the cells that fuse together during sexual reproduction to form a new organism. This lesson covers what these cells are, what they do, and the end result of when they meet.
17. Genetic Drift: Definition, Examples & Types
Genetic drift reduces genetic variability of a population by decreasing the size of the population. The change in population size and variability often leads to new species and unique populations.
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