You need JavaScript to view this

Localization of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping

Abstract

The authors have used chromosome jumping technology to move from within a large intron sequence in the Duchenne muscular dystrophy (DMD) gene to a region adjacent to exons of the gene. The single copy jump clone, HH1, was used to characterize deletions in patients previously shown to be deleted for DNA markers in the 5' end of the gene. 12 out of 15 such patients have breakpoints which lie between HH1 and the genomic locus J-47. Thus the vast majority of the deletions in these patients have proximal breakpoints in a similar region distal to the 5'end of the gene. HH1 was mapped with respect to the X;1 translocation in a DMD female and was shown to lie at least 80 kb from the starting point of the chromosome jump, HIP25.
Publication Date:
Feb 25, 1988
Product Type:
Journal Article
Reference Number:
EDB-88-143626
Resource Relation:
Journal Name: Nucleic Acids Res.; (United Kingdom); Journal Volume: 16:4
Subject:
59 BASIC BIOLOGICAL SCIENCES; GENE MUTATIONS; DNA SEQUENCING; GENETIC MAPPING; HEREDITARY DISEASES; GENETICS; CHROMOSOMAL ABERRATIONS; GENES; PATIENTS; BIOLOGY; DISEASES; MAPPING; MUTATIONS; STRUCTURAL CHEMICAL ANALYSIS; 550400* - Genetics; 550200 - Biochemistry
OSTI ID:
6956435
Research Organizations:
John Radcliffe Hospital, Oxford (England)
Country of Origin:
United Kingdom
Language:
English
Other Identifying Numbers:
Journal ID: CODEN: NARHA
Submitting Site:
JMT
Size:
Pages: 1305
Announcement Date:

Citation Formats

Kenwrick, S J, Smith, T J, England, S, Collins, F, and Davies, K E. Localization of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. United Kingdom: N. p., 1988. Web. doi:10.1093/nar/16.4.1305.
Kenwrick, S J, Smith, T J, England, S, Collins, F, & Davies, K E. Localization of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. United Kingdom. doi:10.1093/nar/16.4.1305.
Kenwrick, S J, Smith, T J, England, S, Collins, F, and Davies, K E. 1988. "Localization of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping." United Kingdom. doi:10.1093/nar/16.4.1305. https://www.osti.gov/servlets/purl/10.1093/nar/16.4.1305.
@misc{etde_6956435,
title = {Localization of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping}
author = {Kenwrick, S J, Smith, T J, England, S, Collins, F, and Davies, K E}
abstractNote = {The authors have used chromosome jumping technology to move from within a large intron sequence in the Duchenne muscular dystrophy (DMD) gene to a region adjacent to exons of the gene. The single copy jump clone, HH1, was used to characterize deletions in patients previously shown to be deleted for DNA markers in the 5' end of the gene. 12 out of 15 such patients have breakpoints which lie between HH1 and the genomic locus J-47. Thus the vast majority of the deletions in these patients have proximal breakpoints in a similar region distal to the 5'end of the gene. HH1 was mapped with respect to the X;1 translocation in a DMD female and was shown to lie at least 80 kb from the starting point of the chromosome jump, HIP25.}
doi = {10.1093/nar/16.4.1305}
journal = {Nucleic Acids Res.; (United Kingdom)}
volume = {16:4}
journal type = {AC}
place = {United Kingdom}
year = {1988}
month = {Feb}
}