21-Hydroxylase Deficiency

The article, Current Status of Neonatal Screening for Congenital supr atomic number 18nal gland Hyperplasia by Maria I newfangled and Saroj Nimkarn states, Greater than 7.5 one thousand million newborns consent been screened for 21-hydroxylase wishing congenital adrenal hyperplasia (CAH) worldwide. 21-hydroxylase deficiency is give birthd by a mutation of the CYP21A2 broker. CYP21A2 is the only gene associated with 21-hydroxylase deficiency. Molecular familial examen of the CYP21A2 gene for a panel of common mutations and gene deletions detects 80%-98% of disease-causing alleles in affected singulars. Genetic testing is clinically useable with confirmatory diagnostic testing, carrier testing, prenatal diagnosis, genetic temper/phenotype correlation for management, and preimplantation genetic diagnosis as stated in the article, Congenital Adrenal Hyperplasia from Medline Plus Online Medical Encyclopedia. U.S. National library of Medicine includes an article called 2 1-Hydroxylase Deficiency, which states, Mutations in the CYP21A2 gene are a great deal caused by exchanges of DNA between the CYP21A2 gene and a truly similar but nonfunctional flake of DNA called a pseudo gene. These mutations alter the structure or production of the enzyme and cause 21-hydroxylase deficiency. This deficiency is also called congenital adrenal hyperplasia.

This condition is transmitted genetically as an autosomal recessive pattern. The parents of an affected individual are normally heterozygous carriers of the magnetic variation allele. This disease affects the glands that are located on the top of the kidneys. These glands begin hormones that r! egulate internal bodily functions; these glands are known as adrenal glands. 21-hydroxylase is an enzyme that creates cholesterol. cholesterin is produces from two hormones, cortisol and aldosterone. Cortisol maintains countercurrent sugar levels, protects the clay from stress, and suppresses inflammation. Aldosterone regulates salt and water levels in the body. bulk with 21-hydroxylase deficiency have a...If you want to get a beat essay, order it on our website: OrderCustomPaper.com

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