Mendelian Disorders in Humans

What are Mendelian disorders?

Mendelian disorders are genetic conditions caused by mutations in a single gene. They are typically inherited in a predictable pattern according to Mendel’s laws of inheritance. Examples include cystic fibrosis, sickle cell disease, and Huntington’s disease.

What are the 3 Major Genetic Disorders?

The 3 major genetic disorders are single-gene disorder, chromosomal disorder, and complex gene disorder.

How Many Types of Mendelian Disorders are there?

There are five types of Mendelian Disorders.

Is Turner Syndrome a Mendelian Disorder?

No, Turner syndrome is not a Mendelian disorder. It is a chromosomal disorder caused by the complete or partial absence of one of the X chromosomes in females.

What is Maternal Inheritance?

Maternal inheritance refers to the transmission of genetic traits exclusively through the maternal lineage. This occurs when certain genes, typically located in the mitochondria.

What Disorder is also Known as Royal Disease?

The disorder commonly known as the “Royal disease” is hemophilia, specifically hemophilia B (also known as factor IX deficiency). It earned this nickname because it was prevalent among the descendants of Queen Victoria of England.

What are the Common Mendelian Diseases?

Some common examples of Mendelian diseases are cystic fibrosis, sickle cell disease, hemophilia, Huntington’s disease, phenylketonuria (PKU), Marfan syndrome, familial hypercholesterolemia, and cystinuria.

Name one Autosomal Recessive Genetic Disorder.

Cystic Fibrosis is an example of recessive genetic disorder.

Name one Example of an X-linked Recessive.

Haemophilia is an example of X-linked recessive.

What is the Difference Between Mendelian and Non-Mendelian Disorders?

Mendelian disorders arise from mutations in single genes following predictable inheritance patterns, while non-Mendelian disorders result from complex interactions between multiple genes and environmental factors.

What are Mendelian Disorders Give Two Examples?

Mendelian disorders are genetic conditions caused by mutations in single genes, following Mendel’s laws of inheritance. Examples include cystic fibrosis and sickle cell anemia.

Mendelian disorders in humans are genetic conditions that follow Mendel’s laws of inheritance, resulting from mutations in a single gene. Common examples of Mendelian disorders are hemophilia, cystic fibrosis, thalassemia, etc. These disorders adhere to predictable patterns of transmission, either through autosomal dominant, autosomal recessive, or X-linked inheritance.

Understanding these Mendelian disorders in humans helps us understand the relationship between genes and phenotypes and guides medical research to promote health and prevent disease. In this article, we will study Mendelian Disorder, the Principles of Mendelian Disorders, and the examples of Mendelian Disorder in detail.