autosome

Examples of autosome in the following topics:

• Polycystic Kidney Disease

  • There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD), and the less-common autosomal recessive polycystic kidney disease (ARPKD).
  • Autosomal dominant polycystic kidney disease (ADPKD) is the most common of all the hereditary cystic kidney diseases, with an incidence of 1:1,000 to 2:1,000 live births.
  • Studies show that the incidence of autosomal recessive polycystic kidney disease (ARPKD) is 1:20,000 live births, and is typically identified in the first few weeks after birth.

• Phenylketonuria (PKU)

  • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder due to a mutation in the phenylalanine hydroxylasegene gene.
  • Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
  • Because PKU is an autosomal recessive genetic disorder, both parents must have at least one mutated allele of the PAH gene.

• Chromosomes and Genes

  • Human chromosomes are divided into two types—autosomes and sex chromosomes.
  • The autosomes contain the remainder of a person's genetic information.
  • All human beings have 23 pairs of chromosomes by which genetic material is developed and characteristically demonstrated; 22 of these are autosomes, while the remaining pair (either XX, female, or XY, male) represents a person's sex chromosomes.

• Congenital Adrenal Hyperplasia

  • Congenital adrenal hyperplasia refers to an autosomal recessive disease caused by mutated genes for enzymes that produce cortisol from cholesterol.
  • Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis).

• Cystic Fibrosis

  • Cystic fibrosis (CF) is an autosomal recessive disorder leading to respiratory congestion, multiple organ failure, and metabolic changes.
  • Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs and also the pancreas, liver, and intestine.
  • CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.

• Disorders in Chromosome Number

  • Monosomy for autosomes is usually lethal in humans and other animals.
  • Down syndrome is the only autosomal trisomy in humans that has a substantial number of survivors one year after birth.

• Sickle-Cell Disease

  • Sickle-cell disease is an autosomal recessive genetic blood disorder in which red blood cells assume a rigid sickle shape.
  • Sickle-cell disease (SCD), or sickle-cell anemia, is an autosomal recessive genetic blood disorder with overdominance characterized by red blood cells that assume an abnormal, rigid, and sickle shape.

• Glucosuria

  • When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive trait.

• Ataxia

  • Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, as well as autosomal recessive disorders such as Friedreich's ataxia.

• X-Inactivation

  • Humans display dramatic deleterious effects with autosomal trisomies and monosomies.
  • Rather than a gain or loss of autosomes, variations in the number of X chromosomes are associated with relatively mild effects.