PPT-Spectrum of genetic variants associated with Familial Hypercholesterolemia and phenotype

Sample amp 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 . KEY POINTS . FH is an autosomal dominant genetic condition that leads to severe elevations in cholesterol levels.. Average LDL is 220mg/dl in . HeFH. and > 500mg/dl in . HoFH. . Lifetime burden of high cholesterol leads to huge increased risk of cardiovascular disease.. Turners. Edwards syndrome. Downs syndrome. Autosomal. Gametes. Cytochrome c. Purine in terms of DNA. Apoptosis. Homologous chromosomes. heterozygous advantage. Karyotype. Lamarck – Acquired characteristics. obesity-associated . intergenic long noncoding . RNAs. Project for “Solving Biological Problems that require Math”. Jennifer Tan. Intergenic. long noncoding RNAs. Pervasive transcription of eukaryotic genomes (not just in protein-coding regions). in familial breast cancer . . can . lie deep in . family . tree. San Ming . Wang. University of Nebraska Medical Center. Genetically defined breast cancer. Sporadic . B. reast . C. ancer . caused by . Developed by . Ms. . Shawna . Morrison, Dr. Judith . Allanson. and Dr. June Carroll. Last updated . October 2016. Disclaimer. This presentation is for educational purposes only and should not be used as a substitute for clinical judgement. GEC-KO aims to aid the practicing clinician by providing informed opinions regarding genetic services that have been developed in a rigorous and evidence-based manner. Physicians must use their own clinical judgement in addition to published articles and the information presented herein. GEC-KO assumes no responsibility or liability resulting from the use of information contained herein. . 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. . 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. 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). Source This information provided by TheFHFoundationorgdiscriminate on the basis of race color national origin age disability or sexATENCIN si habla espaol tiene a su disposicin servicios gratuitos de BMI/CS 776 . www.biostat.wisc.edu/bmi776/. Spring 2022. Daifeng. Wang. daifeng.wang@wisc.edu. These slides, excluding third-party material, are licensed under . CC BY-NC 4.0. . by Mark Craven, Colin Dewey, Anthony . hypercholestrolemia. and pregnancy. Soheila. . S. adeghi. What is our patient’s diagnosis ?. Is her treatment appropriate ?. Is it necessary to evaluate the patient for CAD ?. Pregnancy outcome in mother and fetus ?. 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. State University of Campinas (UNICAMP). School of Medicine. Hematology and . Transfusion Medicine . Center - Hemocentro. Sara Teresinha . Olalla. Saad. Campinas – São Paulo, . Brazil. 2016. Region = 2 717 478 inhabitants .