State Standard 2C. Using Mendel’s laws, explain the role of meiosis in reproductive variability. 2D. Describe the relationships between changes in DNA and potential appearance of new traits Dominant & Recessive Genetic Disorders (11.1)

11.1 Basic Patterns of Human Inheritance Complex Inheritance and Human Heredity Chapter 11 Recessive Genetic Disorders  A recessive trait is expressed when the individual is ____________ recessive for the ____________.  A person who is heterozygous is called a ____________.

Complex Inheritance and Human Heredity Cystic Fibrosis (Recessive)  Common among ____________  Affects the ____________ -producing glands, digestive ____________, and sweat glands  Chloride ____________ are not absorbed into the cells of a person with cystic fibrosis but are ____________ in the sweat.  Without sufficient chloride ions in the cells, a thick ____________ is secreted.  Treatment includes physical therapy, medication, & special diets Basic Patterns of Human Inheritance Chapter 11

A normal woman marries a man with cystic fibrosis. If they have children, what ratio will be totally normal? Explain.

Complex Inheritance and Human Heredity Albinism (Recessive)  Caused by altered ____________, resulting in the absence of the skin pigment ____________ in ____________, skin, and ____________  ____________ e hair  Very pale ____________  ____________ pupils  Sun’s ____________ radiation is especially dangerous 11.1 Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Albinism (Recessive) 11.1 Basic Patterns of Human Inheritance Chapter 11

An albino man marries a woman who is a carrier. Create a Punnett Square to show the possibilities of their offspring. Include genotypic & phenotypic ratios.

Complex Inheritance and Human Heredity Tay-Sachs Disease (Recessive)  Recessive disorder on chromosome _______  Caused by the absence of the ____________ responsible for breaking down ____________ ____________ called gangliosides  Gangliosides accumulate in the ____________, inflating brain nerve cells and causing mental ____________.  Occurs predominantly in ____________ of Eastern European descent Basic Patterns of Human Inheritance Chapter 11

A man & woman who are both Tay Sachs carriers get married & decide to have children. What percent chance is there of them having a purebred normal baby? Use a Punnett Square to determine your answer.

Complex Inheritance and Human Heredity Galactosemia (Recessive)  Recessive genetic disorder characterized by the inability of the body to digest ____________.  These people must avoid ____________ products.  Milk products will cause numerous complications, including ____________ disability Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Dominant Genetic Disorders  Because these disorders are caused by a ____________ allele, they affect people who are homozygous dominant and people who are ____________ Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Huntington’s Disease (Dominant)  Huntington’s disease affects the ____________ system.  Occurs in 1 in ____________ humans.  Symptoms first appear between the ages of ____________.  Symptoms include loss of ____________ function, uncontrollable ____________, and emotional disturbances Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Huntington’s Disease (Dominant) 11.1 Basic Patterns of Human Inheritance Chapter 11

A woman who is hybrid for Huntington’s marries a man who is normal. What will be the genotypic & phenotypic ratios of their children?

Complex Inheritance and Human Heredity Achondroplasia (Dominant)  Achondroplasia is a genetic condition that causes ____________ body size and limbs that are comparatively ____________.  Most common form of ____________.  Adult height of about ____________ feet.  Normal life expectancy Basic Patterns of Human Inheritance Chapter 11

A man & woman who are both heterozygous for Achondroplasia have children. Can they have a normal child? Explain

Complex Inheritance and Human Heredity ____________  A diagram that traces the ____________ of a particular ____________ through several generations 11.1 Basic Patterns of Human Inheritance Chapter 11

Label each part of the diagram below

On your first day interning in the office of a human geneticist, a man with purple ears walks in. You questioned the man and wrote down the following family history. The man's mother and one of his sisters also had purple ears, but his father, his brother, and two other sisters had normal ears. The man and his normal- eared wife had seven children, including four boys and three girls. Two girls and two boys had purple ears. Draw the family pedigree and indicate what form of inheritance that the purple-ear trait most likely follows. (Is it dominant or a recessive passed trait?) Pedigree Challenge

Complex Inheritance and Human Heredity Inferring Genotypes  Knowing physical traits can determine what ____________ an individual is most likely to have. Predicting Disorders  Record keeping helps scientists use pedigree analysis to study inheritance patterns, determine ____________, and ascertain ____________ Basic Patterns of Human Inheritance Chapter 11