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Name:_________________Period_____ Biology I: Chapter 14 Guided Reading Chapter 12.4 When cells make mistakes by inserting an incorrect base or skipping a base, the mistakes that form are called __________________. Two types of gene mutations: 1. _______________________________ 2. _______________________________ What is the difference between the two types of mutations? Many, if not most, mutations are ________________, meaning that they have little or no effect on the expression of genes or the function of the __________________ they code. Mutations are the source of ______________ __________________ in a species. The condition where an organism has extra sets of chromosomes is called ________________. Chapter 14.1 Biologists can view a picture of chromosomes called a ________________, which shows chromosomes arranged in a specific way. How many chromosomes do humans have? How many pairs? ___________________ Two of the chromosomes are called ______ ______________ because they determine an individual’s ________. The remaining pairs of chromosomes are called ________________. Females have _____ X chromosome(s) and _____ Y chromosomes. Males have _____ X chromosomes and _______ Y chromosome. Using the Punnett Square on the next page, show the offspring produced of a cross between a male and female using sex chromosomes. A __________ Chart shows the relationships within a family and how traits are passed from generation to generation. What type of counselor analyzes pedigree charts to infer the genotypes of family member? Show what each symbol stands for in a pedigree chart: Symbol Meaning Circle Male Vertical Line Horizontal Line Person expresses the trait Unshaded square and circle Draw a pedigree chart below for a family in which: A man has unattached earlobes (the trait of interest) and a woman with attached earlobes have three children: one boy, one girl, and then another boy. The two boys have attached earlobes and the daughter has unattached earlobes. Human blood comes in a variety of ______________ determined blood groups. What can a transfusion of bad blood do to a patient? What are the two best known blood groups? 1. ___________________ 2. ___________________ Complete the following table: Phenotype (Blood Type) A B AB O Genotype Blood Groups Antigen on Red Blood Cell Safe Transfusions TO Safe Transfusions FROM Many human genes have become known through the study of genetic disorders. One of the first genetic disorders to be understood this way was __________________________. What do people with the disease lack? How are they able to live with the disease? Name two other autosomal disorders in humans and what the major symptoms include. ______________ are protective proteins in the blood that identify invaders and attack them. The name of the protein identifies what it will attack. Antigens are _____________ ___________________ that identify self from non self. ____________ __________________ is the common genetic disease that is caused by a recessive allele on Chromosome 7. How many bases are deleted in the middle sequence of a protein in patients with CF? ____________ People with this disease are unable to __________ chloride ions which causes _______________________. Chapter 14.2 A human ___________ cell contains more than _________________ base pairs of DNA. Only _______ percent of the DNA in your chromosomes functions as genes. Name the two chromosomes that are the smallest autosomes and how mnay base pairs are in each: 1. ________; ____________ base pairs 2. ________; ____________ base pairs Name the New York Yankee baseball player who suffered from amyotrophic lateral sclerosis (ALS). What does this disease cause? Genes located on sex chromosomes are said to be _______-____________ genes. There have been over _________ sex-linked genetic disorders mapped on the X chromosome. What chromosome contains the gene for colored vision? _________ What is the disorder called where there is an inability to distinguish certain colors? ________________. The most common form of this disorder is _______-___________ _____________________. Males/Females are more likely to have colorblindness. (Circle One) Why is there such a large gender difference in the disorder discussed above? Your book discusses two more disorders related to sex-linked traits. Give the two diseases and describe each in 1 to 2 sentences. 1. ____________________________ 2. ____________________________ If one X chromosome is enough for cells in males, how does the cell “adjust to the extra X chromosome in female cells? If a cat’s fur has three colors- white with orange and black spots- you can be almost certain that its ______________. The most common error that occurs when homologous chromosomes fail to separate is called ___________________. If this happens, ______________ numbers of chromosomes may find their way into _____________ and a disorder may result. Name the most common disorder that is associated with nondisjunction. What’s the word used to describe the “three bodies” that are present in chromosome 21? Disorders that happen among sex-chromosomes can also occur. In females nondisjunction can lead to _____________________________. A female with this disorder usually inherits only _______ X chromosome. These women are ____________ which means that they are unable to _________________. Their sex organs will not develop during puberty. In males, nondisjunction causes _______________________ syndrome. The extra X chromosome usually prevents these individuals from reproducing. Individuals can be genotype XXXY or ___________. Which chromosome contains the sex determination in humans? ________ Does the Mother or Father determine the sex of their child? _______________