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Significance of Autosomal recessive disorder

Autosomal recessive disorder is a genetic condition that emerges when an individual inherits two mutated genes, one from each parent. This disorder typically requires both parents to be carriers, as individuals with only one mutated gene generally do not display symptoms. Commonly associated conditions include spinal muscular atrophy (SMA) and Joubert syndrome. The frequency of autosomal recessive disorders can also be higher in consanguineous marriages, where relatives have children together.

Synonyms: Autosomal recessive condition, Genetic disorder, Hereditary disease, Genetic disease

The below excerpts are indicatory and do represent direct quotations or translations. It is your responsibility to fact check each reference.

The concept of Autosomal recessive disorder in scientific sources

Science Books

Autosomal Recessive Disorders are genetic conditions that occur when an individual inherits two mutated gene copies, often more prevalent in consanguineous marriages, and include diseases like Spinal Muscular Atrophy (SMA).

Significance in Scientific journals, articles, etc.:

From: World Journal of Pharmaceutical Research

(1) A genetic disorder that requires two copies of a mutated gene for manifestation, commonly associated with hereditary hemochromatosis.[1] (2) A genetic condition in which an individual must inherit two mutated genes, one from each parent, to manifest symptoms; carriers with one mutated gene typically show no symptoms.[2] (3) A type of genetic disorder that occurs when an individual inherits two copies of an abnormal gene for the same trait, leading to conditions like Joubert syndrome.[3] (4) An autosomal recessive disorder is a type of genetic condition that occurs when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.[4]

From: Journal of Ayurveda and Holistic Medicine

(1) Genetic conditions that manifest when an individual inherits two copies of a mutated gene, commonly seen at higher frequencies in consanguineous marriages.[5] (2) A type of genetic condition that requires two copies of an abnormal gene to manifest, commonly relevant in SMA.[6]

From: International Ayurvedic Medical Journal

(1) A type of genetic condition that occurs when a person inherits two copies of a mutated gene, one from each parent.[7]

This section includes scientific research in the field of healthcare, often involving traditional medicine systems such as Ayurveda, Unani, Siddha and Holistic health. It includes papers from scientific journals classified as either original, clinical or experimental research, review articles or case reports.

Plural form: Autosomal Recessive Disorders.