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06 · SMB1 · ADN & génétique · 06B.05B · Hérédité I · all pages
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06B.05B · Hérédité I

Inheritance I

SMB1 De la molécule à la cellule Génétique et génomique humaine · 61 pages

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1Course Introduction
2Genetic Disease Types
3Course Agenda
4Course Resources
5Mendelian Definitions6Pedigree Symbols7Transmission Modes
8Autosomal Recessive (AR)
9AR Overview10AR Recognition Features11AR Transmission Risk12CF Counseling Case
13Hardy-Weinberg14HW Definition15HW Application16CF Risk Exercise17CF Risk Poll18Consanguinity Risk Poll19PTC Tasting Trait20PTC Allele Frequency21PTC Frequency Poll
22Allele Frequency Modifiers23Modifiers Overview
1. Consanguinity
241. Consanguinity25Carrier Probability Poll26Consanguinity Risk Poll
2. Selective Advantage
272. Selective Advantage28Sickle Cell Distribution
3. Founder Effect
293. Founder Effect30Tay-Sachs / Ashkenazi Jews
31Autosomal Dominant (AD)
32AD Overview33AD Recognition Features34AD Transmission Risk35Dominant Mechanisms36Dominant Mechanisms Overview
1. Haploinsufficiency
371. Haploinsufficiency38CMT1A Example
392. Gain-of-Function
40HGVS Basics
2. Gain-of-Function
41Achondroplasia Example
42Coding vs Non-Coding Strand43cDNA Numbering Rules44cDNA Numbering Example45Nomenclature Practice46Nomenclature Reference Tools47Nomenclature Exercises
2. Gain-of-Function
49Achondroplasia Mechanism
503. Toxic Mutation
4. Dominant Negative
514. Dominant Negative52Osteogenesis Imperfecta Example
535. Loss of Heterozygosity54AD Phenotype Variables55AD Phenotype Variables Overview561. De Novo Mutations
2. Reduced Penetrance
572. Reduced Penetrance58Penetrance Pedigree Exercise59Penetrance Continuum
603. Variable Expressivity614. Sex-Limited Phenotype