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An intragenicTaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

✍ Scribed by N. German Pasteris; Jerome L. Gorski

Book ID: 104657726
Publisher: Springer
Year: 1995
Tongue: English
Weight: 97 KB
Volume: 96
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00191816

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✦ Synopsis

TaqI polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGDt encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accurate carrier detection of individuals at risk for Aarskog syndrome.

Description. The FGD1 probe is a 3.85-kb EcoRI cDNA insert, denoted as pFCF3.85, that encodes the complete open reading frame of the faciogenital dysplasia gene, the gene responsible for Aarskog syndrome (Pasteris et al. 1994).

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