Guion Practicas Genetica Clinica Biomedicine Hemochromatosis Diagnostic- PCR-Sanger PDF

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Download Guion Practicas Genetica Clinica Biomedicine Hemochromatosis Diagnostic- PCR-Sanger PDF

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LAB PRACTICES- CLINICAL GENETICS Biomedicine UIC

CLINICAL GENETICS –Lab Practices 3r Course Grade: BIOMEDICINE LAB PRACTICES GENETIC DIAGNOSTIC OF A MONOGENIC DISEASE: DETECTION OF THE C282Y MUTATION BY PCR + SANGER SEQUENCING IN PATIENTS WITH SUSPECTED HEREDITARY HEMOCHROMATOSIS (HH)

Profesores responsables: Mayka Sánchez [email protected]

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LAB PRACTICES- CLINICAL GENETICS Biomedicine UIC

Summary content

SAFETY RULES IN THE LAB

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INTRODUCTION

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HEREDITARY HEMOCHROMATOSIS

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VIDEOS FOR THE PRACTICES

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OBJECTIVES

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PLANIFICATION

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LAB PROTOCOL

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DAY 1- PCR, PCR purification and preparation for SANGER SEQUENCING

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DAY 2- DATA ANALYSIS, RESULTS AND QUESTIONS/PROBLEMS TO SOLVE

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QUESTIONS AND PROBLEMS TO SOLVE

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LAB PRACTICES- CLINICAL GENETICS Biomedicine UIC

SAFETY RULES IN THE LAB o The use of a lab coat is mandatory. o It is recommended not to wear open footwear such as sandals or flip flops. It is better to wear footwear that covers the entire foot. o It is recommended to wear your hair up with a ponytail, in case of long hair. o It is important to know the substances with which you work and the safety measures for each of them. The teacher will inform you of these aspects in the execution of the practices. o It is necessary to have a minimum knowledge of the different devices and areas of the laboratory. o It is important to be alert when preparing solutions and getting rid of them in case they contain harmful substances and must be thrown in a specific container. o Eating and drinking is prohibited in the laboratory. o You must read and sign the safety rules for working in the lab that you will find on the Moodle. o Not following the rules or teacher‘s instructions/advice will result in failure of the entire subject.

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LAB PRACTICES- CLINICAL GENETICS Biomedicine UIC

INTRODUCTION HEREDITARY HEMOCHROMATOSIS VIDEO OFICIAL ASOCIACIÓN ESPAÑOLA DE HEMOCROMATOSIS 2:51 HEMOCROMATOSIS HEREDITARIA (Castellano) https://www.youtube.com/watch?v=6JHaE1zvHEk&t (Extracted and adapted from chapter 36: Hemocromatosis. Libro: Manual Práctico de Genética Hematológica (2016). GenHem Mobile App. ISBN: 978-84-608-5757-0. Autores: Mayka Sánchez, Mónica Renedo Gancedo , Rafael Oliva Virgili, Carlos Blas López). 1. Definición de las hemocromatosis hereditarias (HH): Las hemocromatosis hereditarias (HH) son un conjunto heterogéneo de trastornos del metabolismo del hierro que producen de forma crónica un aumento de absorción intestinal del mismo con progresivo depósito en diferentes órganos, con lo que se acaba produciendo daño tisular. 1.1. Tabla resumen de las HH

Hemocromatosis hereditarias Gen/ (proteína)

HH tipo 1

HH tipo 2a

HFE

HFE2 (Hemojuvelina)

HH tipo 2b HAMP (Hepcidina)

HH tipo 3 TFR2

HH tipo 4 SLC40A1 (ferroportina)

Herencia

AR

AR

AR

AR

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Edad de presenta ción Sobrecar ga férrica hepática Daño otros órganos Hierro sérico Sat. Transferri na

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