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Title: Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

Abstract

The neuronal ceroid lipofuscinoses (NCL) are a group of progressive neurodegenerative disorders characterized by the deposition of autofluorescent proteinaceous fingerprint or curvilinear bodies. The authors have found that CLN3, the gene underlying the juvenile form of NCL, is very tightly linked to the dinucleotide repeat marker D16S285 on chromosome 16. Integration of D16S285 into the genetic map of chromosome 16 by using the Centre d'Etude du Polymorphisme Humain panel of reference pedigrees yielded a favored marker order in the CLN3 region of qtel-D16S150-.08-D16S285-.04-D16S148-.02-D16S67-ptel. The most likely location of the disease gene, near D16S285 in the D16S150-D16S148 interval, was favored by odds of greater than 10[sup 4]:1 over the adjacent D16S148-D16S67 interval, which was recently reported as the minimum candidate region. Analysis of D16S285 in pedigrees with late-infantile NCL virtually excluded the CLN3 region, suggesting that these two forms of NCL are genetically distinct. 23 refs., 3 figs., 2 tabs.

Authors:
; ; ;  [1];  [2]; ; ; ;  [3];  [4]
  1. Massachusetts General Hospital, Boston (United States) Harvard Medical School, Boston, MA (United States)
  2. Duke Univ. Medical Center, Durham, NC (United States)
  3. Massachusetts General Hospital, Boston (United States)
  4. Centre d'Etude du Polymorphisme Humain, Paris (France)
Publication Date:
OSTI Identifier:
6596608
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 52:1; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN CHROMOSOME 16; GENETIC MAPPING; LIPIDS; DISEASES; NERVOUS SYSTEM DISEASES; PIGMENTS; BIOLOGICAL MARKERS; RFLPS; CHROMOSOMES; HUMAN CHROMOSOMES; MAPPING; ORGANIC COMPOUNDS; 550400* - Genetics

Citation Formats

Yan, Wenliang, Ozelius, L, Breakefield, X O, Gusella, J F, Boustany, R M.N., Konradi, C, Lerner, T, Trofatter, J A, Haines, J L, and Julier, C. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. United States: N. p., 1993. Web.
Yan, Wenliang, Ozelius, L, Breakefield, X O, Gusella, J F, Boustany, R M.N., Konradi, C, Lerner, T, Trofatter, J A, Haines, J L, & Julier, C. Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. United States.
Yan, Wenliang, Ozelius, L, Breakefield, X O, Gusella, J F, Boustany, R M.N., Konradi, C, Lerner, T, Trofatter, J A, Haines, J L, and Julier, C. 1993. "Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16". United States.
@article{osti_6596608,
title = {Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16},
author = {Yan, Wenliang and Ozelius, L and Breakefield, X O and Gusella, J F and Boustany, R M.N. and Konradi, C and Lerner, T and Trofatter, J A and Haines, J L and Julier, C},
abstractNote = {The neuronal ceroid lipofuscinoses (NCL) are a group of progressive neurodegenerative disorders characterized by the deposition of autofluorescent proteinaceous fingerprint or curvilinear bodies. The authors have found that CLN3, the gene underlying the juvenile form of NCL, is very tightly linked to the dinucleotide repeat marker D16S285 on chromosome 16. Integration of D16S285 into the genetic map of chromosome 16 by using the Centre d'Etude du Polymorphisme Humain panel of reference pedigrees yielded a favored marker order in the CLN3 region of qtel-D16S150-.08-D16S285-.04-D16S148-.02-D16S67-ptel. The most likely location of the disease gene, near D16S285 in the D16S150-D16S148 interval, was favored by odds of greater than 10[sup 4]:1 over the adjacent D16S148-D16S67 interval, which was recently reported as the minimum candidate region. Analysis of D16S285 in pedigrees with late-infantile NCL virtually excluded the CLN3 region, suggesting that these two forms of NCL are genetically distinct. 23 refs., 3 figs., 2 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/6596608}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 52:1,
place = {United States},
year = {Fri Jan 01 00:00:00 EST 1993},
month = {Fri Jan 01 00:00:00 EST 1993}
}