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MindMap Gallery Introduction to Genetics

Introduction to Genetics

Mind map of the introduction to genetics. Medical genetics uses the theories and methods of human genetics to study the characteristics and rules of the transmission of these "genetic diseases" from parents to offspring, their origins and pathological mechanisms, disease processes and their clinical relevance. a comprehensive discipline of relationships

Edited at 2023-10-27 22:15:41

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Introduction to Genetics

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Outline

introduction

Tasks and scope of medical genetics

Genetic disease: a disease in which genetic factors are the only or main cause

Definition of Medical Genetics: A comprehensive subject that uses the theories and methods of human genetics to study the characteristics and rules of the transmission of these "genetic diseases" from parents to offspring, the origin and pathological mechanism, the disease process and its clinical relationship.

Medical genetics focuses on the study of the etiology and pathophysiology of genetic diseases

Modern medical genetics focuses more on comprehensively exploring and analyzing the role of genetic factors in the occurrence, development and prognosis of diseases from a comprehensive perspective.

Medical genetics can be said to be a borderline discipline that combines genetics and medicine through the link of "genetic disease".

Medical genetics is based on human genetics and often studies the relationship between human diseases and heredity from a medical perspective.

Human genetics mainly studies human genetic traits from the perspective of race and human development history, and also extensively studies variations in morphological structure and physiological functions.

The history of medical genetics

From the 1920s to the 1940s, Frederick Griffith and Oswald Avery used pneumococcal transformation experiments to prove that DNA is genetic material.

In 1953, James Watson and Francis Crick proposed the double helix model of DNA.

In 1952, due to the establishment of hypotonic preparation technology (Xu Daojue et al.) and the use of colchicine to obtain more metaphase cell division images, it was confirmed that the number of human cell stains was 46, marking the birth of cytogenetics.

In the 1970s, the use of restriction enzymes enabled scientists to perform controlled manipulations of DNA for the first time.

PCR has become the most widely used basic technology in the field of life sciences

The Human Genome Project started in the 1990s led to revolutionary changes in medical genetics

Human Genome Project

Goal: Elucidate the composition and expression of human genetic information as a whole

Including: genetic map drawing, physical map construction, sequencing, transcription map drawing and gene identification, etc.

The development direction of medical genetics

Genomics-based precision medicine

Identifying abnormalities in genetic material is a top priority in medical genetics research strategies

Precision medicine is an extension of personalized treatment with the rapid development of genomics, functional genomics, bioinformatics and computer technology. It is the development of targeted treatment plans based on the disease characteristics of each individual.

Precision medicine helps achieve accurate diagnosis and classification of genetic diseases and formulate personalized disease prevention and treatment plans

Systems medicine based on traditional genetics

With the rapid development of systems biology and life science technology, the concept of systems medicine emerged as the times require.

In addition to studying the interaction of molecular components within an individual, systems biology also includes the complex interactions between molecular components and their environment or exposure groups.

Overview of genetic diseases

Abnormalities in the structure or expression regulation of genes can lead to the occurrence of genetic diseases

The occurrence of genetic diseases or hereditary diseases requires a certain genetic basis, and is passed on to future generations in a certain way through this genetic basis.

Characteristics of genetic diseases

How genetic diseases are spread

If certain diseases are caused by environmental factors, they should appear in a "horizontal manner" in the population.

If it is hereditary, it generally appears in a "vertical manner" and does not extend to unrelated individuals.

Patients appear in a certain proportion among ancestors and descendants

There are two possibilities for congenital diseases, that is, some congenital diseases are hereditary and some are acquired.

Genetic diseases often have familial characteristics. The so-called familiality refers to the family aggregation of the disease.

It is generally believed that genetic diseases are not contagious, so in terms of transmission mode, they are transmitted vertically rather than horizontally.

Human prion disease is a genetic and contagious disease

Classification of human genetic diseases

single gene disease

polygenic disease

Polygenic disease is a type of disease that has a certain family history but does not have the pedigree characteristics seen in the inheritance of single-gene traits.

chromosomal disease

Chromosome disease is a type of disease caused by abnormalities in the structure or number of chromosomes

somatic genetic disease

Cumulative mutations in somatic genetic diseases refer to the occurrence of somatic gene mutations in specific somatic cells, which is the basis for the occurrence of such diseases.

Mitochondrial genetic diseases

Mitochondrial diseases are diseases caused by defects in mitochondrial DNA

The relationship between the occurrence of diseases and genetic factors and environmental factors

Heredity is a basic life phenomenon of living organisms, which is manifested in the similarity and continuity of traits between parents and offspring.

The disease is entirely determined by genetic factors

Basically determined by genetics, but requires the action of certain incentives in the environment

Phenylketonuria and favismosis

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 has basically nothing to do with genetics

Some issues of genetic diseases in medical practice

Reproduction risk is one of the common problems encountered clinically in genetic diseases. The so-called recurrence risk is the risk of the patient's genetic disease reoccurring in family relatives.

human genome

Unless otherwise noted, the human genome usually refers to the nuclear genome

Genes are the structural and functional units of genetic material in cells and exist on chromosomes in the chemical form of deoxyribonucleic acid.

The human genome is the sum of all genetic information in the human body, including two relatively independent and interrelated nuclear genomes and mitochondrial genomes.

human genes

Genes are DNA fragments with specific "genetic effects" that determine the synthesis of RNA and proteins in cells, thereby determining the genetic traits of organisms. The chemical essence of most biological genes is DNA, but in some viruses that only contain RNA and proteins, RNA is the genetic material.

chemical nature of genes

The basic unit of DNA molecules is deoxyribonucleotides

Four different deoxynucleotides: deoxyadenine nucleotides, deoxyguanine nucleotides, deoxycytosine nucleotides, and deoxythymine nucleotides

Two anti-parallel single strands of deoxypolynucleotides form a DNA double strand through the complementary bases of A and T, C and G.

gene structure

The structural genes of eukaryotic organisms are split genes, which consist of coding sequences (exons) and non-coding sequences (introns), which are arranged alternately. The number and size of introns in different genes vary.

The relationship between introns and exons in split genes is not fixed.

Important features of the split gene structure:

Differential expression of genes occurs because introns of one gene become exons of another gene

The exon-intron linker region is a highly conserved consensus sequence, called the exon-intron linker

human genome

The human genome is actually very complex

single copy sequence

There is only a single copy or a few copies in the genome, also known as non-repetitive sequences, accounting for only 45% of the human genome.

repeating sequence

Approximately 55% of the human genome

These repetitive DNAs were discovered through denaturation and renaturation experiments.

tandem repeat

Take 5bp, 10bp, 20bp, 200bp as a repeating unit

Tandemly repeated DNA is mostly located in the heterochromatin region of chromosomes

Short tandem repeats provide a large number of polymorphic genetic markers for human genetic analysis, which can be used for research on gene mapping, population evolution, and genetic diagnosis.

Interspersed repetitive DNA sequences and other mobile DNA elements

Interspersed repetitive DNA is a repetitive sequence distributed throughout the genome in a dispersed manner, accounting for approximately 45% of the entire genome.

Mainly include type 1 transposons and type 2 transposons

Gene expression and regulation

gene expression

Gene expression is generally a process in which stored genetic information is converted into polypeptide chains composed of specific amino acid types and sequences, and then the polypeptide chains are formed into proteins or enzyme molecules, thereby determining various biological traits.

Includes two steps

Transcribe and synthesize mRNA using DNA as a template

Translate genetic information into corresponding amino acid species and sequences in polypeptide chains

gene expression regulation

The characteristic of gene expression control is that it can activate specific genes at specific times and in specific cells, thereby achieving a "predetermined" orderly differentiation and development process.

The differentiation of cell phenotypes is due to the selective expression of genes encoding these proteins, while most other genes are in an inactive state or a relatively inefficient expression state.

The biological significance of RNA editing

Edited mRNA is translationally active

Enable the mRNA to be read through

The initiation codon AUG can be created at the 5' end of some transcripts to regulate translation activity.

mRNA editing may be related to biological evolution

RNA editing does not deviate from the central dogma because the source of information that provides editing still comes from the genetic information stored in DNA