FAMILIAL GONADAL DYSGENESIS

Project: Research project

Project Details

Description

DESCRIPTION (Adapted from applicant's description): Sex determination is a
fundamental process in human development. The predisposition to many diseases
is affected by whether one is male or female. In addition, approximately one
in every one thousand live-born infants has abnormal gonadal development
(gonadal dysgenesis). Most commonly this occurs from absence of an SRY gene,
mutation of the SRY gene, or failure to transmit the signal of the SRY gene,
but in many cases, the genetic basis is not understood. Based on the
hypothesis that familial cases of sex reversal are caused by mutations in an
autosomal or X-linked gene in the testis determining pathway, the applicant
proposes to identify such a gene by genetic linkage to polymorphic short
tandem repeats (STRs) in a large family with multiple occurrences of pure or
partial gonadal dysgenesis. This work should lead to a better understanding of
the mechanisms of normal and abnormal sex determination.
StatusFinished
Effective start/end date9/4/006/30/01

Funding

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development: $82,500.00

ASJC

  • Endocrine and Autonomic Systems
  • Genetics(clinical)
  • Genetics
  • Molecular Medicine
  • Pathology and Forensic Medicine

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