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. 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. Introduction to Pedigree Genetics. Mr. Nichols. PHHS. Cartoon of the Day: Get . Punked. !. Objectives. The Student will be able to:. 1.) Finish the 2 trait . P. unnet square practice problems. . 2.) Sketch and describe the basic anatomy of a family pedigree.. Julie A. Dunlap, MS, CCC-SLP. SPHSC . 543. Winter 2010. Genetic Diseases. ~3-4% of all children are born with a major genetic or congenital disease . Not only extremely rare diseases. Importance of correct diagnosis. A shape with a dot in the center denotes a ‘carrier’. Cartoons of the Day!. Cartoons of the Day!. Cartoons of the Day!. Cartoons of the Day!. Cartoons of the Day!. Are you ready for some Pedigrees?!?!. Most genes are carried on the ___________, ______ chromosomes other than the sex chromosomes. These disorders affect males and females ________ and are due to _____ mutations. Autosomal disorders can be divided into three groups based on the pattern of inheritance.. ..  . I. f . individuals I-1 and I-2 had a fourth child, what is the chance that the child would have attached earlobes. ?. 1- 0%. 2- 50%. 3- 75%. 4- 100%. Answer is 2- 50%. The pedigree below tracks the presence of dimples through a family's generation. Having dimples is an autosomal dominant trait.. Two copies of each autosomal gene affect phenotype.. Mendel studied autosomal gene traits, like hair texture. . Mendel. ’. s rules of inheritance apply to autosomal genetic disorders.. A heterozygote for a recessive disorder is a carrier. . 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.. We all have a number of recessive gene variants which are hidden due to the fact that we have a backup working copy of the gene, and therefore enough of the right gene product is made.www.genetics.edu 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 :. A. nalyzing . the pattern of inheritance of . a . special trait . throughout a family. . And it shows . the presence or absence of a trait . with in the family across generation.. Genotype: . Genetics. 胡育嘉. Supervisor: Vs . 楊思婷. Index. Introduction. Mechanism and Etiology. Trisomy 21. Trisomy 18. Trisomy 13. Introduction. Introduction. Aneuploidy. : . cytogenetic abnormalities in which .