MindMap Gallery Introduction to Medical Genetics Mind Map
This is a mind map about the introduction to medical genetics, including the tasks and scope of medical genetics, a brief history of the development of medical genetics, the human genome, the development direction of genetics, an overview of genetic diseases, etc.
Edited at 2023-11-03 11:44:40El cáncer de pulmón es un tumor maligno que se origina en la mucosa bronquial o las glándulas de los pulmones. Es uno de los tumores malignos con mayor morbilidad y mortalidad y mayor amenaza para la salud y la vida humana.
La diabetes es una enfermedad crónica con hiperglucemia como signo principal. Es causada principalmente por una disminución en la secreción de insulina causada por una disfunción de las células de los islotes pancreáticos, o porque el cuerpo es insensible a la acción de la insulina (es decir, resistencia a la insulina), o ambas cosas. la glucosa en la sangre es ineficaz para ser utilizada y almacenada.
El sistema digestivo es uno de los nueve sistemas principales del cuerpo humano y es el principal responsable de la ingesta, digestión, absorción y excreción de los alimentos. Consta de dos partes principales: el tracto digestivo y las glándulas digestivas.
El cáncer de pulmón es un tumor maligno que se origina en la mucosa bronquial o las glándulas de los pulmones. Es uno de los tumores malignos con mayor morbilidad y mortalidad y mayor amenaza para la salud y la vida humana.
La diabetes es una enfermedad crónica con hiperglucemia como signo principal. Es causada principalmente por una disminución en la secreción de insulina causada por una disfunción de las células de los islotes pancreáticos, o porque el cuerpo es insensible a la acción de la insulina (es decir, resistencia a la insulina), o ambas cosas. la glucosa en la sangre es ineficaz para ser utilizada y almacenada.
El sistema digestivo es uno de los nueve sistemas principales del cuerpo humano y es el principal responsable de la ingesta, digestión, absorción y excreción de los alimentos. Consta de dos partes principales: el tracto digestivo y las glándulas digestivas.
Introduction to Medical Genetics
Tasks and scope of medical genetics
Definition of medical genetics:
Use the theories and methods of human genetics to study the characteristics and rules, origin and occurrence, pathological mechanisms, disease processes and clinical relationships (including diagnosis, treatment and prevention) of these "genetic diseases" from parents to offspring. A comprehensive discipline.
Research scope of genetics:
Medical genetics studies the relationship between genes and diseases; the pathogenesis, diagnosis and treatment of genetic diseases; and their impact on humans
A brief history of the development of medical genetics
1865 Law of Separation and Free Association
1908 law of genetic equilibrium
1953 DNA double helix structure
The number of human chromosomes in 1956 was 2n=46
First DNA diagnosis in 1976
PCR technology was invented in 1986
1990 Human Genome Project
human genome
human genes
human genome
nuclear genome
Mitochondrial genome.
chemical nature of genes
Deoxyadenine nucleotides (dAMP, A), deoxyguanine nucleotides (dGMP, G), deoxycytosine nucleotides (dCMP, C) and deoxythymine nucleotides (dTMP, T)
gene structure
human genome
sequence
Single copy sequences have only a single copy or a few copies in the genome, also known as non-repetitive sequences, accounting for 45% of the human genome.
Repetitive sequences Repetitive DNA accounts for approximately 55% of the human genome
gene expression
① Use DNA as a template to transcribe and synthesize mRNA;
②Translate genetic information into the corresponding amino acid types and sequences in the polypeptide chain.
gene expression regulation
Transcription level regulation
Post-transcriptional regulation
Translation level control
Regulation at the post-translational level
Epigenetic regulation
The future of genetics
Human Genomics
.gene map
genetic map
physical diagram
Transcription map
Sequence Diagram
Genomics promotes medicine to enter the era of precision medicine
According to each individual's disease characteristics (pathogenesis, possible mechanisms, etc.), a targeted treatment plan is developed, the patients are divided into different subgroups, and corresponding treatments are given.
Systems medicine based on traditional genetics
.Systems Medicine
Guided by the methods and principles of systems theory, it is a new medical thinking model that integrates and analyzes complex medical data, resources and information, and fully expands and rationally applies it.
Overview of genetic diseases
Characteristics of genetic diseases
Does not extend to unrelated individuals.
There is a certain quantitative relationship between patients and normal members
congenital genetic disease
Familial genetic disease
In terms of communication method, it is transmitted vertically rather than horizontally.
Classification of human genetic diseases
single gene disease
polygenic disease
chromosomal disease
somatic genetic disease
Mitochondrial genetic diseases
Online Mendelian Inheritance in Man (OMIM)
"Online Mendelian Inheritance in Man (OMIM)
The relationship between the occurrence of diseases and genetic factors and environmental factors
The disease is entirely determined by genetic factors
Basically determined by genetics, but requires the action of certain incentives in the environment
Both genetic factors and environmental factors play a role in the pathogenesis, and their heritability varies in different diseases.
The onset of disease depends entirely on environmental factors and basically has nothing to do with genetics