PPT-Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in

Presented on behalf of the foundation fighting blindness consortium investigator group Outline Background Study Design Participants and Methods Results Discussion Background USH2A Biallelic diseasecausing variants in . Review. Why is genetics important?. Genetics. -the study of how genes bring about characteristics (traits) in living things and how those traits are inherited . Genes. Portions of DNA molecules that determine characteristics of living things. Genetics = the study of . HEREDITY. Heredity = Passing of . Traits. from parents to offspring. Predicted how . TRAITS. are transferred from one generation to the next. Father of Genetics. Gregor. Mendel, an Austrian monk is known as the FATHER of GENETICS.. Squares. Genes and Alleles. Gene: Place on chromosome and determines certain trait. Allele: variation of that trait. Ex: . Gene: Eye color. Located on 5. th. gene from the top. Alleles: Brown, Blue, Green, Gray. db/db. Mice. Student: Bailey . Lindenmaier. Mentors: Dr. Russell Turner & Dr. Urszula Iwaniec. Skeletal Biology Lab. Introduction. Age related Osteoporosis- Porous bone. 1 in 3 women and 1 in 5 men over the age of 50 worldwide are estimated to have osteoporosis. Tt. Tall. tt. Short. The answer is _______ because: . Review from Objective 1. Which of the following depicts a dominant genotype? (tall – dominant, short – recessive). Tt. Tall. tt. Short. The answer is _______ because: . . Inheritance. . Review. . Incomplete. . Inheritance. Co-dominance. . Inheritance. SBI3U. •. . When. . one. . (1). . allele. . is. . stronger. . (so. . dominant). . than. . the. . The most well-known and medically important blood types are in the ABO group. . All humans and many other primates can be typed for the ABO blood group. . There are four principal types: A, B, AB, and O. . What it is & What it can do for you. Knowledge Management & Eskind Biomedical Library. January 27, 2012. helen . n. aylor. helen.naylor@vanderbilt.edu. 936.3103. Objectives. Quick review of Central Dogma. Pre 1800s – blending hypothesis. 1850s – Gregor Mendel. Pisum. . sativum. . – what makes pea good genetic model?. -. -. -. -. Pea character (gene) = . Pea trait (allele) = . self fertilization . DSM-5:. NOT WITHOUT CONTROVERSY. American Psychiatric Association. 1. An Introduction to DSM-5,Its Development, Changes, and Controversies. Researched and Developed by Rhinehart Lintonen. The presentation herein is the intellectual property of Rhinehart Lintonen and does not reflect the attitudes or positions of the American Psychiatric Association. This presentation was developed for the use of the membership of the Milwaukee Area Teachers of Psychology and their students. Any other use should request permission at lintonen@hotmail.com. The intent of this presentation is to delineate the development of the present DSM and to document changes from DSM-IV-TR. Critiques and controversies presented are those of the persons or groups cited.. Dominant Trait. “Stronger” trait. Will show as long as gene is present. Represented by capital letter (B). Recessive Trait. “Weaker” trait. Needs to have 2 to show up. Represented by lowercase letter (b). DSM-5: A First Look Matt Dugan, LPC Steve Donaldson, MAC,CACII DAODAS: Charleston Center Opening Considerations Brand NEW! Clinician’s Perspective Assumes familiarity with DSM-IV-TR Relax…we’ve got time. Sample & Methods. . 100 index cases (IC): 87 adults and 13 children; 8 were severe forms. . Identifies variants were traced in 36 relatives. NGS panel: LDLR, APOB, PCSK9, LDLRAP1 and APOE . (. Genetics Pedagogies Project. Annie Jamieson (A.K.Jamieson@leeds.ac.uk). Source: Aaron Harvey/ . Flikr. Source: . lanmccorWikimedia. Commons. Autosomal recessive. Autosomal dominant. X-linked recessive.