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Introduction

Genetic View of Disease

Disease Caused by Environmental Factors

Disease Cause by both E + G

Disease Determined by G, need induction of E

Disease Caused by Genetic Factors


Genetic Factors and Chronic Diseases


Genetic Diseases Fight Infectious Diseases

  • Sickle Cell Trait and Malaria
  • Cystic Fibrosis and Cholera
  • Tay-Sachs Disease and Tuberculosis

Why some genetic disease are more popular in some population?

Genetic of Infectious Diseases


All Human Traits are Heritable


What is Medical Genetics

  • Human genetics that relates to disease
  • Study of diseases with genetic origin
  • Application of genetics to medical practice
  • Service provided for those related to genetics (e.g. Counseling)

Medical Genetics vs Human Genetics


Myths of Human Genetics


Medical Genetics vs Clinical Genetics


Development of Medical Genetics

  • Mendelism : 1865 & 1990
  • Cytogenetics: XXY Klinefelter syndrome & XO Turner syndrome
  • Biochemical Genetics : Alkaptonuria
  • Immunogenetics : ABO blood types
  • Statistical, Formal, and Population Genetics
  • Chromosomology : Banding → Molecular Cytogenetics
  • Somatic Cell Genetics : HeLa Cell
  • Molecular Genetics : DNA
  • Chromosome Mapping
  • The Human Genome Project and Genomics

Before Mendel

By pedigree studies, Pierre de Maupertuis found polydactyly (extra digits) and albi­nism (lack of pigmentation) were inherited in different ways.

Mendel’Laws

  • Law of segregation
  • Law of independent assortment
  • Law of dominance

A type of inheritance that follows these laws is termed Mendelian inheritance.

The basic unit of heredity was latter termed as gene by Johannsen.

Online Mendelian Inheritance in Man (OMIM)


Genetic Disease

  • Disease inheritable
  • Disease caused, totally or partially by genetic abnormalities (Classical)
  • Disease with Genetic relevance
  • Precision Medicine: consider genetic factors in all medical practice

Characteristics of Genetic Diseases

Vertical Transmission

Quantity Distribution

  • Specific Quantitative distribution pattern
  • Different in inheritance patterns

Congenital

  • Congenital, but Not Genetic: Birth defects caused by environmental factors
  • Huntington’s Disease

Familial

Some may be infectious (Prion Diseases)

Categories of Genetic Disease

Single-Gene Disorder

Chromosome Abnormalities

Severe

Multifactorial/Polygenetic Disorders

Popular

Acquired Somatic Genetic Disease

Cancer

Mitochondrial genetic disorder


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