Diseases With A Single Gene

Single gene diseases, defined as disruptions in the DNA chain that occur in a single gene, are problems that occur as a result of a possible structural problem in an organ or tissue. On average, over 4000 single gene diseases have been identified today. The origin of autosomal or gonosomal genes determines the level of involvement in these types of changes, which are referred to as mutations.

A mutation of both genes or a single gene in the same locus available in a double autosomal chromosome is observed in autosomal inherited diseases. These are the types of diseases that have a high recurrence risk. There are cases where single gene diseases cause multiple genetic locus diseases that are unrelated to each other. As a result, the recurrence risk of the diseases varies from person to person.

What Exactly Are Autosomal Dominant Disorders?

Autosomal dominant diseases are problems caused by functional changes in one of the gene pairs located on the same locus. The occurrence risk of the disease is approximately 50% in the children of people affected by these diseases. The gene structure, which is made up of a structural protein, can be passed down from generation to generation.

What Exactly Are Autosomal Recessive Disorders?What Exactly Are Autosomal Recessive Disorders?

If a functional change occurs in both of the gene pairs located in the same locus, autosomal recessive disease occurs. Autosomal recessive diseases, which are one of the 3% of single gene diseases, do not have a chance of manifesting themselves in every generation. The fact that a person has a consanguineous marriage or descends from a similar ancestor as his or her spouse is a risk factor for these diseases.

What is the difference between X-Linked Recessive Inheritance and Dominant Inheritance?

Except in rare cases, the carriers of Xlinked recessive inheritance problems are generally females, as opposed to men. Because men only have one X chromosome, being a carrier is not mentioned in X-linked diseases. For all pregnancies, the risk of being sick for the boys and girls born to carrier women is 50%. Disease risk is equal in both boys and girls in X-linked dominant inheritance problems. It differs from autosomal inheritance problems in that there is no risk of the disease manifesting itself in boys.