Positional cloning of disease genes on chromosome 16

PDF Version Also Available for Download.

Description

The project seeks to elucidate the molecular basis of an important genetic disease (Batten`s disease) by molecular cloning of the affected gene by utilizing an overlapping clone map of chromosome 16. Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomoter disturbances. The Batten disease gene was genetically mapped to the chromosome region 16p 12.1 in close linkage with the genetic markers D16S299 and D16S298. Exon amplification of a cosmid containing D16S298 yielded a candidate gene that was disrupted by a 1 kb genomic ... continued below

Physical Description

6 p.

Creation Information

Doggett, N.; Bruening, M.; Callen, D.; Gardiner, M. & Lerner, T. April 1, 1996.

Context

This report is part of the collection entitled: Office of Scientific & Technical Information Technical Reports and was provided by UNT Libraries Government Documents Department to Digital Library, a digital repository hosted by the UNT Libraries. More information about this report can be viewed below.

Who

People and organizations associated with either the creation of this report or its content.

Authors

  • Doggett, N. Los Alamos National Lab., NM (United States)
  • Bruening, M. Leiden Univ. (Netherlands)
  • Callen, D. Adelaide Women`s and Children`s Hospital, North Adelaide, South Australia (Australia)
  • Gardiner, M. University Coll., London (United Kingdom)
  • Lerner, T. Massachusetts General Hospital, Boston, MA (United States)

Sponsor

Publisher

Provided By

UNT Libraries Government Documents Department

Serving as both a federal and a state depository library, the UNT Libraries Government Documents Department maintains millions of items in a variety of formats. The department is a member of the FDLP Content Partnerships Program and an Affiliated Archive of the National Archives.

Contact Us

What

Descriptive information to help identify this report. Follow the links below to find similar items on the Digital Library.

Description

The project seeks to elucidate the molecular basis of an important genetic disease (Batten`s disease) by molecular cloning of the affected gene by utilizing an overlapping clone map of chromosome 16. Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomoter disturbances. The Batten disease gene was genetically mapped to the chromosome region 16p 12.1 in close linkage with the genetic markers D16S299 and D16S298. Exon amplification of a cosmid containing D16S298 yielded a candidate gene that was disrupted by a 1 kb genomic deletion in all patients containing the most common haplotype for the disease. Two separate deletions and a point mutation altering a splice site in three unrelated families have confirmed the gene as the Batten disease gene. The disease gene encodes a novel 438 amino acid membrane binding protein of unknown function.

Physical Description

6 p.

Notes

OSTI as DE96008776

Source

  • Other Information: PBD: [1996]

Language

Item Type

Identifier

Unique identifying numbers for this report in the Digital Library or other systems.

  • Other: DE96008776
  • Report No.: LA-UR--96-0238
  • Grant Number: W-7405-ENG-36
  • DOI: 10.2172/212498 | External Link
  • Office of Scientific & Technical Information Report Number: 212498
  • Archival Resource Key: ark:/67531/metadc668238

Collections

This report is part of the following collection of related materials.

Office of Scientific & Technical Information Technical Reports

Reports, articles and other documents harvested from the Office of Scientific and Technical Information.

Office of Scientific and Technical Information (OSTI) is the Department of Energy (DOE) office that collects, preserves, and disseminates DOE-sponsored research and development (R&D) results that are the outcomes of R&D projects or other funded activities at DOE labs and facilities nationwide and grantees at universities and other institutions.

What responsibilities do I have when using this report?

When

Dates and time periods associated with this report.

Creation Date

  • April 1, 1996

Added to The UNT Digital Library

  • June 29, 2015, 9:42 p.m.

Description Last Updated

  • Feb. 29, 2016, 6:59 p.m.

Usage Statistics

When was this report last used?

Yesterday: 0
Past 30 days: 0
Total Uses: 5

Interact With This Report

Here are some suggestions for what to do next.

Start Reading

PDF Version Also Available for Download.

Citations, Rights, Re-Use

Doggett, N.; Bruening, M.; Callen, D.; Gardiner, M. & Lerner, T. Positional cloning of disease genes on chromosome 16, report, April 1, 1996; New Mexico. (digital.library.unt.edu/ark:/67531/metadc668238/: accessed October 18, 2017), University of North Texas Libraries, Digital Library, digital.library.unt.edu; crediting UNT Libraries Government Documents Department.