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Project Details

MOLECULAR BASIS OF PREAXIAL POLYDACTYLY TYPE 2

Project Number7R29HD033369-06

Contact PI/Project LeaderHING, ANNE V

Awardee OrganizationUNIVERSITY OF WASHINGTON

Description

Abstract Text

DESCRIPTION: The goals of this application are to clone the gene for preaxial polydactyly type 2 (PPD2), and to determine the role of PPD2 in limb development. Patients with PPD have a polydactyly of the thumbs, fingers or toes. Specifically, PPD2 results in polydactyly of the thumbs and duplication of the big toe. PPD is inherited as an autosomal dominant with variable expressivity. Preliminary work by this investigator, and collaborators, have demonstrated linkage of PPD2 to a 5 cM region in 7q36. The specific aims of this application are: 1. To collect additional family members from a large pedigree currently being analyzed, and to collect new PPD2 pedigrees and confirm they link to 7q31. 2. Develop new microsatellite markers from this region to refine the localization of PPD2. 3. Identify candidate PPD2 genes from this refined region. 4. Analyze patterns of expression of genes from the minimal region to see if they are expressed appropriately during development to be candidate PPD2 genes. 5. Mutation analysis of candidate genes to identify the correct PPD2 gene.

Public Health Relevance Statement

Data not available.

NIH Spending Category

No NIH Spending Category available.

Project Terms

autosomal dominant traitbiomarkercongenital skeletal disorderdevelopmental geneticsfamily geneticsfingersfootgene expressiongene mutationgenetic disordergenetic markersgenetic polymorphismhuman genetic material taghuman subjectlimbslinkage mappingmolecular cloning

Details

Contact PI/ Project Leader

Name

HING, ANNE V

Title

Contact

Other PIs

Not Applicable

Program Official

Name

JAVOIS, LORETTE CLAIRE

Contact

Organization

Name

UNIVERSITY OF WASHINGTON

City

SEATTLE

Country

UNITED STATES (US)

Department Type

PEDIATRICS

Organization Type

SCHOOLS OF MEDICINE

State Code

Congressional District

Other Information

Opportunity Number

Study Section

Mammalian Genetics Study Section[MGN]

Fiscal Year

1999

Award Notice Date

21-January-2000

Administering Institutes or Centers

Eunice Kennedy Shriver National Institute of Child Health and Human Development

CFDA Code

865

DUNS Number

605799469

UEI

HD1WMN6945W6

Project Start Date

01-August-1995

Project End Date

31-August-2001

Budget Start Date

01-September-1999

Budget End Date

31-August-2001

Project Funding Information for 1999

Total Funding

$112,708

Direct Costs

$88,747

Indirect Costs

$46,148

Year	Funding IC	FY Total Cost by IC
1999	Eunice Kennedy Shriver National Institute of Child Health and Human Development	$112,708

Sub Projects

No Sub Projects information available for 7R29HD033369-06

Publications

Publications are associated with projects, but cannot be identified with any particular year of the project or fiscal year of funding. This is due to the continuous and cumulative nature of knowledge generation across the life of a project and the sometimes long and variable publishing timeline. Similarly, for multi-component projects, publications are associated with the parent core project and not with individual sub-projects.

No Publications available for 7R29HD033369-06

Patents

No Patents information available for 7R29HD033369-06

Outcomes

The Project Outcomes shown here are displayed verbatim as submitted by the Principal Investigator (PI) for this award. Any opinions, findings, and conclusions or recommendations expressed are those of the PI and do not necessarily reflect the views of the National Institutes of Health. NIH has not endorsed the content below.

No Outcomes available for 7R29HD033369-06

Clinical Studies

No Clinical Studies information available for 7R29HD033369-06

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