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

N G Pasteris; J L Gorski

doi:10.1007/BF00191816

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

Hum Genet. 1995 Oct;96(4):494. doi: 10.1007/BF00191816.

Authors

N G Pasteris¹, J L Gorski

Affiliation

¹ Department of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0688, USA.

PMID: 7557980
DOI: 10.1007/BF00191816

Abstract

A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 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.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Abnormalities, Multiple / genetics*
Base Sequence
Deoxyribonucleases, Type II Site-Specific / genetics*
Facial Bones / abnormalities*
Humans
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic
Urogenital Abnormalities*
X Chromosome

Substances

Deoxyribonucleases, Type II Site-Specific
TCGA-specific type II deoxyribonucleases

Grants and funding

NS-30771/NS/NINDS NIH HHS/United States