2. Circle the genotypes in the table that are homozygous. Explain how the two different homozygous genotypes result in different phenotypes.

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1 Genetics Supplement (These supplementary modules, a Genetics Student Handout, and Teacher Preparation Notes with background information are available at By Drs. Scott Poethig, Ingrid Waldron, and Jennifer Doherty, Dept. Biology, Univ. Pennsylvania, 2014.) We all know that children tend to resemble their parents in appearance. Parents and their children tend to have similar appearance because children inherit genes from their parents and these genes influence characteristics such as skin and hair color. How do genes influence our characteristics? 1. A gene is a segment of a molecule that gives the instructions for making a protein. Different versions of the same gene are called alleles, and different alleles give the instructions for making different versions of a. The different versions of a protein can result in different characteristics, as illustrated in this table. Genotype Protein Phenotype (characteristics) AA or Aa Enough normal enzyme to make melanin in skin and hair Normal skin and hair color aa Defective enzyme for melanin production Very pale skin and hair color (albino) If both copies of a gene have the same allele, the person is homozygous for that gene. If the two copies of a gene have different alleles, the person is heterozygous. Often, in a heterozygous individual a dominant allele determines the observable characteristic and the other recessive allele does not affect the phenotype. Thus, a heterozygous person has the same phenotype as a person who is homozygous for the dominant allele. In our example, the A allele is dominant because it codes for normal, functional enzyme and, even in a heterozygous individual, there is enough of this normal, functional enzyme to produce enough melanin to result in normal skin and hair color. The a allele is recessive because it codes for a non-functional enzyme which does not affect skin or hair color in a heterozygous individual. 2. Circle the genotypes in the table that are homozygous. Explain how the two different homozygous genotypes result in different phenotypes. 3. What are the two different genotypes for the albinism gene that result in the same phenotype? - Explain how two people with different genotypes can have the same phenotype.

2 How does a baby inherit genes from his or her mother and father? As you know, each gene is a part of a DNA Mother molecule. Each DNA molecule is contained in a Meiosis chromosome. You will see that we can understand egg how a baby inherits genes from his or her mother Fertilization and father by understanding how the genecarrying chromosomes move during meiosis to zygote form gametes and fertilization to form the zygote Mitosis that develops into a baby. baby Inheritance of Albinism To learn more about how genetic traits are inherited, we will start with a specific question: If each parent has one A allele and one a allele (i.e. both parents are Aa), what different combinations of A and/or a alleles could be observed in the children of these parents? Father Meiosis sperm To answer this question your group will use model chromosomes to demonstrate meiosis and fertilization. The pair of homologous chromosomes for each parent will include one model chromosome with an A allele and another with an a allele. 4. One of you should be the mother and use your model chromosomes to demonstrate how meiosis produces different types of eggs, and another should be the father and demonstrate how meiosis produces different types of sperm. In this chart, write in the genetic makeup of the two types of eggs and the two types of sperm produced by meiosis. Next, model fertilization, using the model chromosome for each type of sperm to fertilize each type of egg. Write the genetic makeup of the resulting zygotes in the chart. Biologists use a similar chart to analyze inheritance However, biologists omit much of the detail shown above and use a simplified version called a Punnett Square. 5. In this Punnett square, circle each symbol which represents the genetic makeup of a gamete produced by the heterozygous mother or father. - Use an * to indicate the genotype of each zygote. A a A a AA Aa Aa aa 6. The genotypes of the zygotes in the Punnett square represent the possible genotypes of the children of this couple. Explain why each child will have the same genotype as the zygote that he or she developed from.

3 7. For the Aa mother in this Punnett square, what fraction of her eggs have an a allele? - What fraction of the Aa father's sperm have an a allele? A a A a AA Aa - What fraction of this couple's children would you expect to be aa? Explain your reasoning. Aa aa 8. Complete this Punnett square for two parents who are homozygous AA. Complete this Punnett square for two parents who are homozygous aa. Complete this Punnett square for a mother who is heterozygous Aa and a father who is homozygous aa. 9. For each of the four Punnett squares on this page, indicate the phenotypes of each parent and each child (N = normal skin and hair color or O = albino). Notice that most of the children have the same phenotypic characteristic as one or both parents. - Circle the only example of a child who has a phenotypic characteristic that is not observed in either parent. 10. Explain why two albino parents won't have any children with normal skin and hair color, but two parents with normal skin and hair color could have an albino child. 11. Albino children are rare in the general population. Based on this observation, what is the most common genotype for parents? Explain your reasoning.

4 Genetics of Sex Determination As you probably know, human males have an X and a Y chromosome (XY), whereas females have two X chromosomes (XX). The gene that results in the development of male anatomy is located on the Y chromosome. This gene is called SRY, which stands for Sex-determining Region of the Y chromosome. If a zygote has a Y chromosome with the SRY gene, the embryo will develop testes and male anatomy. If a zygote does not have a Y chromosome with the SRY gene, the embryo will develop ovaries and female anatomy. 1. In the figure below, use X and Y to show the separation of the sex chromosomes in meiosis (mother on the left and father on the right). Then show the formation of a zygote that will develop into a female (on the left) or a male (on the right). Meiosis Fertilization 2. Draw a Punnett Square which shows the inheritance of the sex chromosomes. Use X to indicate an egg or sperm with an X chromosome and Y to indicate a sperm with a Y chromosome. 3. Based on this Punnett Square, what percent of children would you expect to be male? 4. To test this prediction, begin by writing down the initials of all the children your mother has had. Arrange these initials in order from the youngest to the oldest, indicating whether each was male or female. - Use this information and the information from the other students in your group to complete the upper rows of the table on the next page. Add your group's data on the total number of children and total number of males to the class data your teacher is collecting.

5 5. Complete the following table. Your mother's children Sex of each child 1 st 2 nd 3 rd 4 th 5 th + Total number of children Total number of males % males Children of the mother of another student in your group Children of the mother of another student in your group Children of the mother of another student in your group Children of the mothers of all the students in your class Predicted percent from Punnett square (see question 2) 6. Use your group's data and data from nearby student groups to answer the following questions. - If a mother's first child is a son, is the next child necessarily a daughter? - If a mother's first child is a daughter, is the next child necessarily a son? - If a mother's first two children are the same sex, is the next child necessarily the opposite sex? These observations illustrate that you cannot predict the sex of the next child based on the sex of a previous child or children. Each time a sperm fertilizes an egg, this fertilization event is independent of any previous fertilizations that resulted in older brothers or sisters. 7. Compare the predicted percent male from the Punnett square with the observed percent male for your mother s children and for the children of the mothers of each of the other students in your group. How similar to the prediction are the observed results for each of the families? - How can you explain any differences between the Punnett square prediction and the observed results? Random variation in which sperm fertilizes which egg has a bigger effect on the percent male in small samples such as an individual family, but random variation can also influence the percent male for larger samples such as the children of the mothers of all of your classmates. - How similar is the class result to the prediction from the Punnett square?

6 Pedigree Analysis Geneticists illustrate the inheritance of a gene within a family by using a pedigree chart. In a pedigree chart, males are symbolized by a square ( ) and females are symbolized by a circle ( ). People who are affected by a condition or disease are symbolized by a dark square or circle. This pedigree chart shows the inheritance of albinism in three generations of a family. 1 and 2 represent a couple who had five children, including a son who is labeled 3 and a daughter who is labeled 5. Only one of their children, 5, was an albino. One of their sons (3) and his wife (4) had four children, including a son (6) who was an albino Write the genotypes of each individual who is labeled with a number in the pedigree. Use A to represent the dominant allele and a to represent the recessive allele. Begin by writing in the genotypes of 5 and 6. How do you know their genotypes? - Explain how you can determine the genotypes of 1 and 2. Show the Punnett Square for these parents, and write their genotypes in the pedigree. - Write the genotypes of 3 and 4 in the pedigree. - Explain how you can figure out the genotype of 7 and write her genotype in the pedigree. Many other conditions are the result of homozygous recessive alleles, so these conditions are inherited in the same manner as albinism. These include: sickle cell anemia cystic fibrosis (a genetic disease that results in difficulty in breathing and serious illness) phenylketonuria (a genetic disease that results in mental retardation unless phenylketonuria is detected at birth and treated with a special diet).

7 This pedigree shows the inheritance of a different condition called achondroplasia (ay-kon-druh-playzhuh), a form of dwarfism. Dark circles or squares indicate individuals with achondroplasia Think about 5 and 6 and their children. Based on this family, is the allele that causes achondroplasia recessive or dominant? How do you know? Include a Punnett square for 5 and 6 in your answer, using D to represent the dominant allele and d to represent the recessive allele. - In the pedigree, write the genotypes of 5 and 6. - Write the genotypes of 2, 3 and 7. How do you know their genotypes? 3. Determine the genotypes of 1 and 4 and write them in the pedigree. Explain your reasoning. 4. Based on the frequency of dwarfs among the people you have seen in your lifetime, do you think that the allele for achondroplasia is common or rare in the population? Explain your reasoning.

8 Challenge Questions 5. Most people who have the achondroplasia allele did not inherit this allele from their parents. For people with the achondroplasia allele who did not inherit it from their parents, what biological process is the most likely explanation for their achondroplasia allele? We have analyzed two types of models of inheritance: a Punnett Square and a pedigree. A model is a simplified representation of a biological process that demonstrates important aspects of the process. Models can make it easier to understand important features of a complex biological process. 6. What are some advantages of a Punnett Square as a model of inheritance? - What is one limitation of a Punnett Square as a model of inheritance? - What is one advantage of a pedigree as a model of inheritance? - What is one limitation of a pedigree as a model of inheritance?

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