Asked by: Xacobe De Hera

Asked in category: medical health, diabetes

Last Updated: 6th Jul 2024

Is Muscular Dystrophy a monogenic condition?

Monogenic disorders (or monogenic traits) are conditions that are caused by variation within a single gene. They are often identified by striking familial inheritance patterns. These include cystic fibrosis and sickle cell, Huntington disease, Duchenne muscular dystrophy, and cystic fibrosis.

Is Huntington's disease monogenic?

A single defective gene can be passed on to a child through one copy of monogenic autosomal dominating disorders. Autosomal dominant disorders include many serious and common genetic disorders that affect adults, including Huntington's Chorea and polysystic renal disease.

Similar, what are some examples of monogenic disease? Mendel Revisited: Monogenic Diseases

Maladies	Types of Inheritance
Phenylketonuria (PKU)	Autosomal recessive
Cystic Fibrosis	Autosomal recessive
Sickle-cell anemia	Autosomal recessive
Albinism, oculocutaneous, type II	Autosomal recessive

Also, Cystic Fibrosis is it monogenic or polygenic?

Because these diseases involve a small number of genes, they are referred to as "oligogenic" instead of "polygenic". Cystic Fibrosis, for example, is typically characterized by a single-gene disorder associated with recessive mutations within the CFTR gene. Figure 1: Complexity of monogenic diseases.

What are the monogenic diseases?

Scientists estimate that more than 10,000 human diseases could be considered monogenic. Pure genetic diseases can be caused by one error in one gene in the human genome. The function of the modified gene determines the nature of the disease.

17 Related Question Answers Found

Is Alzheimer's disease a multifactorial disorder?

Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder, the development of which is regulated by several environmental and genetic risk factors.

What are the 3 types of genetic disorders?

There are three types of genetic disorders:

Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed.
Complex disorders, where there are mutations in two or more genes.

What is the most common genetic disease?

Most common disorders

Disorder	Chromosome	Mutation
Prader–Willi syndrome	15	DCP
Sickle cell disease	11p	P
Spinal muscular atrophy	5q	DP
Tay–Sachs disease	15	P

What is monogenic disease?

Monogenic Disorder. Monogenic disorders are Mendelian disorders for which changes in a single gene are implicated in the disease process and that usually exhibit characteristic inheritance patterns (ie, additive, dominant, or recessive genetic models).

What race has the most genetic disorders?

Examples of genetic conditions that are more common in particular ethnic groups are sickle cell disease, which is more common in people of African, African American, or Mediterranean heritage; and Tay-Sachs disease, which is more likely to occur among people of Ashkenazi (eastern and central European) Jewish or French

What causes a genetic disease?

Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that

What are 5 genetic diseases?

Information About 5 Common Genetic Disorders

Down Syndrome.
Thalassemia.
Cystic Fibrosis.
Tay-Sachs disease.
Sickle Cell Anemia.
Learn More.
Recommended.
Sources.

Is Huntington's disease dominant?

Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent.

What is the rarest genetic disorder?

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

Is PKU monogenic?

Phenylketonuria (PKU) is a classic 'monogenic' autosomal recessive disease in which mutation at the human PAH locus was deemed sufficient to explain the impaired function of the enzyme phenylalanine hydroxylase (enzymic phenotype), the attendant hyperphenylalaninemia (metabolic phenotype) and the resultant mental

How many genes do humans have?

However, many genes do not code for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent.

Is Cystic Fibrosis hereditary?

Cystic fibrosis (CF) is a genetic disease. This means that it is inherited. A child will be born with CF only if they inherit one CF gene from each parent. A person who has only one CF gene is called a CF carrier.

Is Cystic Fibrosis a Mendelian disorder?

Cystic fibrosis (CF) is a Mendelian “monogenic” recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Welsh et al. 2001).

What is a Mendelian disease?

A Mendelian trait is one that is controlled by a single locus in an inheritance pattern. In such cases, a mutation in a single gene can cause a disease that is inherited according to Mendel's principles. Examples include sickle-cell anemia, Tay–Sachs disease, cystic fibrosis and xeroderma pigmentosa.

Is cancer a genetic disease?

Genetic Changes and Cancer

Cancer is a genetic disease—that is, cancer is caused by certain changes to genes that control the way our cells function, especially how they grow and divide.

What is polygenic inheritance?

Polygenic inheritance occurs when one characteristic is controlled by two or more genes. Often the genes are large in quantity but small in effect. Examples of human polygenic inheritance are height, skin color, eye color and weight. Polygenes exist in other organisms, as well.

Is Cystic Fibrosis a single gene mutation?

Some genetic diseases, such as cystic fibrosis, are caused by mutations in a single gene. A gene contains DNA “letters” that spell out the instructions to make a specific protein. When the protein isn't made correctly, it can lead to a cascade of problems.

Is Muscular Dystrophy a monogenic condition?

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