PPT-Warm-up Problem : Autosomal Recessive

Steve and Linda have a history of cystic fibrosis CF in their families Steve is a carrier of CF and Linda is heterozygous They always wanted a family with three children make the children any gender you wish. This presentation . builds on session 1 exploring patterns of inheritance. Patterns of inheritance. The objectives of this presentation are to:. Understand how genes are inherited. Understand the differences between the inheritance patterns associated with Autosomal dominant, Autosomal recessive, X-linked recessive and chromosomal abnormalities. 5.3- . Following. Patterns . of . Inheritance. in . Humans. What is a Pedigree?. Flowchart; “Genetic Family Tree. Symbols show inheritance patterns of traits over generations. Used to determine presence/absence of an allele responsible for disease in an individual.. Have you ever seen a family tree… do you have one??. Graphic representation of family inheritance.. Pedigree of Queen Victoria. Inheritance patterns:. Autosomal. dominant:. Examples: Polydactyly. Modes of inheritance. are the patterns in which single-gene traits and disorders occur in families. Huntington disease is autosomal dominant. - Affects both sexes and typically appears every generation. Humans have 23 pairs of chromosomes, containing 3 billion letters of DNA code and 24,000 genes.. One set comes from MOM and one set comes from DAD. There are 22 pairs of autosomes and 1 pair of sex chromosomes, X and Y.. Sixth Edition. Chapter 5. Heredity and Disease. Mary Lou Mulvihill. Mark Zelman. Paul Holdaway. Elaine Tompary. Jill Raymond. Chapter 5. . Heredity and Disease. Slide 10 Sickle Cells. Slide 24 Down Syndrome. 1 GRADING RUBRIC. Autosomal Dominant. A . = the trait (a genetic disease or abnormality, dominant) a = normal (recessive) . . a) . Write the genotype of the affected (abnormal) individual next to her symbol in the pedigree . A genetic disorder that is caused by abnormality in an individual's DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of a whole chromosome or set of chromosomes.. ACO2Infantile cerebellar-retinaldegenerationAR614559 Optic atrophy9AR616289 AFG3L2Spinocerebellarataxia 28AD610246 Spasticataxia 5AR614487 Optic atrophy12-618977 Joubert syndrome 3AR608629 ANO10Spinoc September 2019 www.BioInteractive.org Page 1 of 7 Activity Educator Materials Inheritance and Mutations in a Single - OVERVIEW This activity supplements the short film Genes as Medicine , which desc Achondroplasia Fibroblast growth factor receptor 3 Autosomal normal parents can have an affected child due to new mutation, and risk of recurrence in subsequent children is low) Short limbs relative t SUMMARY: Iron is an essential element for humans like many other living organisms. Both insufficientand increased amounts of iron result in disease. In this concise review, absorption, transport, and A. Karyotypes. C. Down Syndrome. 1. Down syndrome is most common autosomal trisomy, involves chromosome 21. .. 2. Most often, Down syndrome is due to nondisjunction during gametogenesis.. a. In 23% of cases, the sperm had the extra chromosome 21..