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MindMap Gallery Single gene genetic disease mind map

Single gene genetic disease mind map

Mind map on single-gene genetic diseases, medical genetics, including the basic inheritance patterns of single-gene genetic diseases, factors affecting the analysis of single-gene genetic diseases, etc.

Edited at 2023-11-09 12:07:07

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Single gene genetic disease mind map

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Outline

single gene genetic disease

If the occurrence of a genetic disease involves only a pair of genes, this gene is called a major gene, and the disease caused by it is called a single-gene genetic disease (in line with Mendelian inheritance)

concept

locus

The location of genes on chromosomes

allele

Refers to genes located at the same position on a pair of homologous chromosomes that control different forms of the same trait.

multiple alleles

In a population, more than two alleles can exist at the same site on a homologous chromosome

genotype

Refers to the collective name of all genetic combinations of a certain biological individual

Phenotype

An observable or identifiable characteristic resulting from a genotype

Homozygous

Diploid individuals with the same genotype at the same locus on homologous chromosomes

Heterozygote

Heterozygotes refer to individuals with two different genotypes at the same site on homologous chromosomes

Research methods

pedigree

A family tree drawn using symbols and lines → reflecting the relationship between individuals with a certain shape or patients with a certain genetic disease and family members

Proband/index case

The first sick individual or member of a certain shape in a family that is discovered by doctors or researchers

Commonly used symbols in genealogy

Genealogy analysis

Determine how genes are inherited

Determine the source of the disease-causing gene

Estimating the fate of disease-causing genes

Basic inheritance patterns of single-gene genetic diseases

Autosomal dominant inheritance (AD)

The gene that controls a trait or disease is a dominant gene, located on autosomes 1 to 22

Completely explicit

Heterozygous patients exhibit exactly the same phenotype as dominant homozygous patients

Brachydactyly—type A1

pedigree characteristics

The disease-causing gene is located on an autosomal chromosome, and men and women have equal chances of developing the disease.

The phenomenon of continuous transmission can be seen in pedigrees, that is, there are patients in successive generations.

One of the patient's parents must be the patient. At this time, 1/2 of the patient's siblings will be affected. If both parents are not affected, it is caused by a new mutation.

About 1/2 of patients’ children will become ill

Incomplete/semi-dominant

The phenotype of a heterozygote is between the phenotypes of a dominant homozygote and a recessive homozygote

Achondroplasia

co-dominance

A pair of alleles has no dominant or recessive difference between each other. In the heterozygous state, the functions of both genes can be expressed, and they produce gene products independently to form corresponding phenotypes.

ABO blood group system

Irregular dominance

In some autosomal dominant diseases, the heterozygous dominant gene does not show corresponding symptoms for some reason, or even if it does occur, the severity of the disease is different, making the transmission method somewhat irregular.

Polydactyly

Penetrance

Among individuals with a disease-causing gene in a population, the percentage of people showing the corresponding pathological phenotype

fully exposed

Not fully visible

frustration type

skipped generation inheritance

expressiveness

Heterozygotes cause differences in the degree of expression between individuals for some reason

Osteogenesis Imperfecta Type I

multiple fractures

blue sclera

conductive hearing loss

Marfan syndrome

Finger length, good flexibility, thin

Lens loss → high myopia

The aorta of the heart swells and becomes thin → ruptured

Influencing factors

Modifying genes

It plays the role of enhancing or weakening the main gene, so that the traits determined by the main gene cannot be fully expressed.

environmental effects

delayed dominance

Refers to certain heterozygotes with dominant disease-causing genes that do not show corresponding symptoms in early life. When they reach a certain age, the effects of the disease-causing genes are expressed.

Huntington's disease

Features

dynamic mutation

genetic imprint

Autosomal recessive (AR)

The gene that controls a trait or disease is a recessive gene, located on autosomes 1 to 22

Features

The disease-causing gene is located on an autosomal chromosome, and men and women have equal chances of developing the disease.

Continuous inheritance is not seen in pedigrees, and sometimes there is only one patient with the proband

two questions

The patient's siblings have a higher incidence rate

Increased risk of disease among children of consanguineous marriages

close relative

Some individuals with common ancestors within 3 to 4 generations

Kinship coefficient

Refers to the probability that two individuals with a common ancestor have the same allele at a certain locus

first degree relative

0.5

second degree relative

0.25

third degree relative

0.125

Features

Consanguineous marriages have a higher risk of AR than offspring born from random marriages

The rarer a type of AR disease, the higher the risk of the disease in offspring of consanguineous marriages

X-linked dominant inheritance (XD)

The gene that controls a dominant trait is located on the X chromosome and is passed along the X chromosome from one generation to the next.

Hemizygous

The genes on the X chromosome in male body cells are not paired

cross inheritance

Male X-linked genes can only be passed from mother to daughter in the future

feature

There are more female patients than male patients in the pedigree, and female patients may have milder disease → Heterozygote Leon hypothesis

One of the patient's parents is also suffering from the disease

Among the offspring of male patients, all daughters will be affected and all sons will be normal; among the offspring of female patients, the children will each have 1/2 risk of developing the disease.

Can be passed down through generations in a pedigree

Vitamin D-resistant rickets

X-linked recessive (XR)

The gene that controls a recessive trait is located on the X chromosome

Features

There are more male patients than female patients in the population

cross inheritance

red-green color blindness

Y-linked inheritance

Genes that determine a certain trait or disease are located on the Y chromosome

Features

all-male inheritance

Hirsutism of external auditory canal

Mitochondrial inheritance (not consistent with Mendelian inheritance)

Factors affecting the analysis of single-gene genetic diseases

genetic heterogeneity

A trait can be controlled by many different genes

include

allelic heterogeneity

Different mutations occurring at the same locus cause different families with the same disease to have different types of mutations.

locus heterogeneity

Mutations occurring at different loci have the same phenotypic effect

Gene pleiotropy (pleiotropy)

One gene determines or affects the formation of multiple traits

genetic imprint

There are functional differences between certain alleles in both parents. The same chromosome or gene passed from parents of different genders to their offspring can cause different phenotypes when changed.

restricted inheritance

The gene for a certain trait or disease is located on an autosome and can be dominant or recessive, but is only expressed in one gender

uterovaginal hydrops

hypospadias

Inherited by sex

The gene for a certain trait or disease is located on an autosomal chromosome and can be dominant or recessive. The phenotype is affected by gender and shows differences in the distribution ratio of men and women or the degree of gene expression.

primary hemochromatosis

androgenic alopecia

Phenocopy

Due to environmental effects, the phenotype of an individual is the same as that produced by a specific gene mutation.