Autosomal dominant genetic diseases are among one of the few ways by which disorders is passed or inherited from one generation to other generation.
In Autosomal dominant genetic diseases, the abnormal gene or the mutant gene is transferred from the single parent only. Often, one of the parents may have the disease.
Information about Autosomal dominant genetic disease
Passing a disease or the trait mainly depends on the type of the chromosome that is affected whether it is sex chromosome or nonsex chromosome. On trait, it is also dependent whether it is dominant or recessive.
Autosomal disorders are caused due to the presence of single abnormal gene within the autosomes from either parent. These chromosomes are nonsex chromosomes.
When an abnormal gene is transferred from one parent then it is known as dominant inheritance. The condition only occurs when the same chromosome of other parent is normal. And in such condition abnormal gene dominates over the normal gene.
The other reason behind such disease is that the child has parents which do not have the abnormal gene.
The child has 50% chance of getting the disease when the parent is having the autosomal dominant condition. And such condition is applicable for every pregnancy.
The chance of getting disease does not depend on the condition of sibling whether they have a disease or not.
The children who do not have the abnormal gene are not able to develop or pass the disease to next generation.
If in offsprings the disease is found i.e. autosomal disease then both the parents are also tested for the abnormal gene.
Some of the autosomal dominant diseases:
- Huntington disease
- Myotonic dystrophy
- Tuberous sclerosis
- Polycystic kidney
- Hereditary spherocytosis
- Von Willebrand disease
- Marfan syndrome
- Ehlers-Danlos syndromes
- Osteogenesis imperfecta
- Familial hypercholesterolemia
- Acute intermittent porphyria
Facts about autosomal dominant genetic disorders
- The traits in autosomal dominant genetic disorders should not skip generations.
- When an affected person is crossed with an unaffected person then the chances of an affected offspring should be 50%.
- Among both the sexes, the distribution of the trait is equal.
- Such traits can be transmitted by either male or female i.e. it does not depend on the type of sex.
- Both heterozygote and homozygote are affected by this.
- In families, many conditions follow this scheme of inheritance.
- In few, it is obvious while in others symptoms do not appear until the late of life.
- Autosomal dominant genetic disease pattern is followed by neurofibromatosis type I, achondroplasia, Huntington’s disease, inherited a predisposition to breast, ovary and bowel cancers and many other diseases follow this pattern of mutated gene transfer.