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Molecular study of the AR gene in patients with AIS

AUTHOR Imen, Ben Nacef
PUBLISHER Our Knowledge Publishing (04/20/2021)
PRODUCT TYPE Paperback (Paperback)

Description
Androgen insensitivity syndrome (AIS) is the result of dysfunction of the androgen receptor causing a deficit in the action of these hormones in target organs. Mutations in the AR gene that codes for this receptor cause varying degrees of androgen receptor dysfunction which is subsequently expressed as a mismatch between phenotype and genotype. Androgen insensitivity syndrome is the most common etiology of male pseudohermaphroditism. The objective of this work is to search for molecular abnormalities of the AR gene in 12 Tunisian patients with ASI and to study the clinical-genetic correlation in them. We looked for mutations in the AR gene by the direct sequencing method from PCR products. Complete genotype determination was possible in 5 of 12 patients studied. The sequencing made it possible to identify two new mutations not reported in the literature as well as three previously described mutations.
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Product Details
ISBN-13: 9786203635881
ISBN-10: 620363588X
Binding: Paperback or Softback (Trade Paperback (Us))
Content Language: English
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Page Count: 80
Carton Quantity: 88
Product Dimensions: 6.00 x 0.19 x 9.00 inches
Weight: 0.28 pound(s)
Country of Origin: US
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BISAC Categories
Science | Life Sciences - Genetics & Genomics
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Androgen insensitivity syndrome (AIS) is the result of dysfunction of the androgen receptor causing a deficit in the action of these hormones in target organs. Mutations in the AR gene that codes for this receptor cause varying degrees of androgen receptor dysfunction which is subsequently expressed as a mismatch between phenotype and genotype. Androgen insensitivity syndrome is the most common etiology of male pseudohermaphroditism. The objective of this work is to search for molecular abnormalities of the AR gene in 12 Tunisian patients with ASI and to study the clinical-genetic correlation in them. We looked for mutations in the AR gene by the direct sequencing method from PCR products. Complete genotype determination was possible in 5 of 12 patients studied. The sequencing made it possible to identify two new mutations not reported in the literature as well as three previously described mutations.
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