Medical Genetics

4.

Molecular Genetics and Diagnostics

4.1.

Molecular Basis of Genetic Disease

4.1.1.

Loss-of-Function Mutations

4.1.1.1.

4.1.1.2.

Reduced Function

4.1.1.3.

Protein Truncation

4.1.2.

Gain-of-Function Mutations

4.1.2.1.

Enhanced Activity

4.1.2.2.

4.1.2.3.

Constitutive Activation

4.1.3.

Dominant Negative Mutations

4.1.3.1.

Mutant Protein Interference

4.1.3.2.

Multimeric Proteins

4.1.3.3.

Structural Proteins

4.1.4.

Haploinsufficiency

4.1.4.1.

Single Copy Insufficient

4.1.4.2.

Dosage-Sensitive Genes

4.1.4.3.

Developmental Genes

4.1.5.

Allelic Heterogeneity

4.1.5.1.

Multiple Mutations Same Gene

4.1.5.2.

Phenotypic Variation

4.1.5.3.

Mutation Spectrum

4.1.6.

Locus Heterogeneity

4.1.6.1.

Multiple Genes Same Phenotype

4.1.6.2.

Genetic Heterogeneity

4.1.6.3.

4.1.7.

4.1.7.1.

Phenotype Modulation

4.1.7.2.

Genetic Background Effects

4.1.7.3.

Epistatic Interactions

4.2.

Laboratory Techniques in Medical Genetics

4.2.1.

DNA Extraction and Quantification

4.2.1.1.

4.2.1.2.

Extraction Methods

4.2.1.3.

Quality Assessment

4.2.1.4.

Quantification Methods

4.2.2.

Polymerase Chain Reaction

4.2.2.1.

Conventional PCR

4.2.2.1.1.

4.2.2.1.2.

Thermal Cycling

4.2.2.1.3.

Product Analysis

4.2.2.2.

4.2.2.2.1.

Fluorescent Detection

4.2.2.2.2.

Quantitative Analysis

4.2.2.2.3.

Melting Curve Analysis

4.2.2.3.

Reverse Transcription PCR

4.2.2.3.1.

4.2.2.3.2.

4.2.2.3.3.

Expression Analysis

4.2.2.4.

4.2.2.4.1.

Absolute Quantification

4.2.2.4.2.

Rare Variant Detection

4.2.2.4.3.

Copy Number Analysis

4.2.3.

Gel Electrophoresis

4.2.3.1.

Agarose Gel Electrophoresis

4.2.3.1.1.

4.2.3.1.2.

Size Determination

4.2.3.1.3.

Visualization Methods

4.2.3.2.

Polyacrylamide Gel Electrophoresis

4.2.3.2.1.

High Resolution

4.2.3.2.2.

Small Fragment Analysis

4.2.3.2.3.

Protein Separation

4.2.4.

Sanger Sequencing

4.2.4.1.

Principles and Workflow

4.2.4.1.1.

Chain Termination Method

4.2.4.1.2.

Fluorescent Labeling

4.2.4.1.3.

Capillary Electrophoresis

4.2.4.2.

Data Interpretation

4.2.4.2.1.

Chromatogram Analysis

4.2.4.2.2.

Quality Assessment

4.2.4.2.3.

Variant Identification

4.2.5.

Fluorescence In Situ Hybridization

4.2.5.1.

4.2.5.1.1.

Target Specificity

4.2.5.1.2.

Fluorescent Labels

4.2.5.1.3.

4.2.5.2.

Applications in Diagnosis

4.2.5.2.1.

Deletion Detection

4.2.5.2.2.

Translocation Analysis

4.2.5.2.3.

Copy Number Assessment

4.2.6.

Chromosomal Microarray Analysis

4.2.6.1.

Array Comparative Genomic Hybridization

4.2.6.1.1.

Comparative Analysis

4.2.6.1.2.

Copy Number Detection

4.2.6.1.3.

Resolution Limits

4.2.6.2.

4.2.6.2.1.

Genotype Analysis

4.2.6.2.2.

Copy Number Detection

4.2.6.2.3.

Loss of Heterozygosity

4.2.6.3.

Detection of CNVs

4.2.6.3.1.

Pathogenic CNVs

4.2.6.3.2.

4.2.6.3.3.

Clinical Interpretation

4.2.7.

Next-Generation Sequencing

4.2.7.1.

Whole Exome Sequencing

4.2.7.1.1.

4.2.7.1.2.

Coding Region Analysis

4.2.7.1.3.

Variant Filtering

4.2.7.2.

Whole Genome Sequencing

4.2.7.2.1.

Complete Genome Coverage

4.2.7.2.2.

Structural Variants

4.2.7.2.3.

Non-coding Regions

4.2.7.3.

Targeted Panel Sequencing

4.2.7.3.1.

Gene Panel Design

4.2.7.3.2.

Focused Analysis

4.2.7.3.3.

Clinical Applications

4.2.7.4.

Data Analysis and Interpretation

4.2.7.4.1.

Bioinformatics Pipelines

4.2.7.4.2.

Variant Annotation

4.2.7.4.3.

Clinical Reporting

4.2.8.

Southern Blotting

4.2.8.1.

Principle and Applications

4.2.8.1.1.

4.2.8.1.2.

Hybridization Detection

4.2.8.1.3.

Repeat Expansion Analysis

4.2.9.

Multiplex Ligation-dependent Probe Amplification

4.2.9.1.

Principle and Applications

4.2.9.1.1.

Copy Number Detection

4.2.9.1.2.

Methylation Analysis

4.2.9.1.3.

Point Mutation Detection

4.2.10.

Quality Control and Validation in Genetic Testing

4.2.10.1.

Laboratory Standards

4.2.10.2.

Proficiency Testing

4.2.10.3.

Method Validation

4.2.10.4.

Result Verification

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