PPT-Medical Genetics LECTURE

4 M FaiyazUlHaque PhD FRCPath Atypical Patterns of Inheritance Lecture Objectives By the end of this lecture students should be able to appreciate the possibility of atypical patterns of inheritance with special emphasis on. By: Keith King. Objectives. State the history of genetics;. Describe major century events;. Define terms used in genetics . History of Genetics. People have known about inheritance for a long time.. --children resemble their parents. Stephen Montgomery. smontgom@stanford.edu. montgomerylab.stanford.edu. @. sbmontgom. Identifying the genes and variants responsible for disease.. Monogenic to polygenic diseases. Rare to common variants. Next Generation Sequencing:. A technical perspective. Bristol Genetics Laboratory. Joanne Davies. Genetic Technologist. Objectives. Summarise the NGS assays currently available at BGL. Look at the general challenges with NGS assays. A. Structure of DNA. 1. discovered by James Watson and Francis Crick in 1953. 2. stores genetic information for the production of proteins. 3. composed of nucleotides. A) a nucleotide is composed of a nitrogenous base, sugar, and phosphate. Two organisms. One characteristic. Complete dominance . Solving Genetics Problems : Monohybrid Crosses. Complete dominance . the . dominant allele. completely masks the effect of the . recessive allele. Objectives. State the history of genetics;. Describe major century events;. Define terms used in genetics . History of Genetics. People have known about inheritance for a long time.. --children resemble their parents. How are genes, chromosomes, and heredity “related” to one another?. Standards:. S7L3a. Explain the role of genes and chromosomes in the process of inheriting a specific trait.. http://www.yourgenome.org/landing_dgg.shtml. 1 PURA gene purine rich element binding protein A Normal Function The PURA gene provides instructions for making a protein called Pur-alpha (Pur a ), binda molecular cousin of DNAa molecular cousin 1 Generalized arterial calcification of infancy Description GACIGACI system that becomes apparent before birth or within the first few months of life. It is calcificationcalcification walls of the bl 1 PIGO gene phosphatidylinositol glycan anchor biosynthesis class O Normal Function The PIGO gene provides instructions for making one part of an enzyme called GPI GPI-ET3GPI-ET3 produced from a ge pgEdorgAdapted for PBS LearningMedia in partnership with WETA 2020 bitly/GeneEducationSNAPSHOTIntroduction to Genetics and MedicineAdapted for PBS LearningMedia in partnership with WETA for use withBi Background. Somali Bovine Genetics established 2015 and is a leader in bovine genetics and artificial breeding technology in Somalia. . SBG. provides quality genetics and related products to farmers in Somalia. We maintain a fully staffed imported semen distribution facility and liquid nitrogen production center, complete animal feed mill in Mogadishu, Somalia. In the coming months we will plan to set up feed analysis laboratory and milk processing plant with prober cold chains.. ., MSc . Agro (On Progress). . . I. Genetics: The Science of Heredity and Variation. Definition of Genetics. The beginning of Genetics. The Scope of Genetics. Application of Genetics. Objectives. 2017. ggibson.gt@gmail.com. http://www.cig.gatech.edu. Outline. General . overview of association . studies. Sample Results. Three steps to GWAS:. Primary scan. Replication. Fine mapping. Individual Site Score.