Autosomal Dominant Meaning

Autosomal Dominant Meaning

The human chromosome is basically divided into 2 types i.e., Autosomes and Allosomes. Autosomes are chromosomes, not sex chromosomes. Dominant is that gene trait that masks the recessive trait gene expression....

Types of Inheritance

Autosomal Dominant...

Autosomal Dominant Inheritance

Autosomal dominant inheritance is a genetic inheritance, which explains how a gene mutation is carried from parent to offspring. In this case, the related rare disease or genetic condition can be caused by just one copy of the gene mutation. Only one mutated copy of the gene is required for a dominant trait to show in a heterozygote, and this trait is often passed down from one generation to the next. A parent with an autosomal dominant trait has a 50% chance of passing that trait on to each of their children. The human body contains 22 pairs of autosomes (non-sex chromosomes) out of a total of 23 pairs of chromosomes, the autosomes, contain the genes responsible for autosomal inheritance. This indicates that prevalence is the same for both males and females....

Autosomal Dominant Inheritance Examples

Huntington’s Disease – This disease is an example of an autosomal dominant disorder. This genetic condition leads to the degeneration of the body’s brain and nerve cells. The mutant huntingtin proteins in homozygotes have not lost their normal function, allowing normal growth and development until the gain of function causes early neuronal death. It affects mainly older adults and leads to the deterioration of their mental and physical abilities. Early symptoms shown during this genetic disorder include memory lapses, stumbling, depression, and mood swings. A cure for this disorder is currently unavailable, and it is usually fatal within 10-25 years of the first onset of symptoms.  Marfan syndrome – It is an autosomal dominant disorder. Patients affected by this syndrome exhibit some of the cardiovascular and skeletal manifestations, but lack ocular abnormalities. It affects the body’s connective tissue, and one of its main symptoms is over-flexible joints. The affected individuals usually resemble a tall and thin stature. Marfan syndrome is also not usually diagnosed until later in adulthood. A mutation in the FBN1 gene is the main reason causing the syndrome.  Autosomal dominant polycystic kidney disease (ADPKD) – It is an inherited disease in which the kidneys are the primary site of clusters of cysts, which over time causes the kidneys to get bigger and lose function. Cysts are fluid-filled, spherical, non-cancerous sacs. The cysts can get very large and come in various sizes. The kidneys can be damaged if they have a lot of cysts or big cysts. The liver and other organs can also develop cysts due to polycystic kidney disease. High blood pressure and kidney failure are significant problems that can result from this disorder. The severity of PKD varies greatly, and some consequences can be avoided. Treatments and a change in lifestyle may be able to reduce complications to the kidneys. Polycystic kidney disease is typically caused by abnormal genes, and it runs in families. In a few cases, a  genetic mutation can eventually appear on its own (spontaneously). Osteogenesis Imperfecta (OI) – It is a group of genetic disorders that mainly affect the development of the bones. People with this condition have very weak bones that break easily, due to a little trauma. However, the severity differs from person to person. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases involve only a few fractures over a person’s lifetime. Some people may also have dental disease and hearing loss due to this disease. Other symptoms include muscle weakness, loose joints, and skeletal malformations. On the basis of their features and genetic causes, Osteogenesis imperfecta are distinguished into various recognized forms. Depending on the genetic cause, it can be inherited in an autosomal dominant or autosomal recessive pattern....

Autosomal Dominant Pedigree Pattern

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FAQs on Autosomal Dominant Inheritance

Question 1: What is Autosomal Dominant Inheritance?...