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Title: Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13

Abstract

We previously reported that the 400 kb interval flanked the polymorphic loci D5S435 and D5S557 contains blocks of a chromosome 5 specific repeat. This interval also defines the SMA candidate region by genetic analysis of recombinant families. A YAC contig of 2-3 Mb encompassing this area has been constructed and a 5.5 kb conserved fragment, isolated from a YAC end clone within the above interval, was used to obtain cDNAs from both fetal and adult brain libraries. We describe the identification of cDNAs with stretches of high DNA sequence homology to exons of {beta} glucuronidase on human chromosome 7. The cDNAs map both to the candidate region and to an area of 5p using FISH and deletion hybrid analysis. Hybridization to bacteriophage and cosmid clones from the YACs localizes the {beta} glucuronidase related sequences within the 400 kb region of the YAC contig. The cDNAs show a polymorphic pattern on hybridization to genomic BamH1 fragments in the size range of 10-250 kb. Further analysis using YAC fragmentation vectors is being used to determine how these {beta} glucuronidase related cDNAs are distributed within 5q13. Dinucleotide repeats within the region are being investigated to determine linkage disequilibrium with the disease locus.

Authors:
; ;  [1]
  1. John Radcliffe Hospital, Oxford (United Kingdom) [and others
Publication Date:
OSTI Identifier:
133308
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0035
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; HUMAN CHROMOSOME 5; GENETIC MAPPING; DNA SEQUENCING; MUSCLES; GENES; YEASTS; CONTIGS; DNA-CLONING; HUMAN CHROMOSOME 7; DNA HYBRIDIZATION; FLUORESCENCE

Citation Formats

Davies, K.E., Morrison, K.E., and Daniels, R.I. Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13. United States: N. p., 1994. Web.
Davies, K.E., Morrison, K.E., & Daniels, R.I. Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13. United States.
Davies, K.E., Morrison, K.E., and Daniels, R.I. Thu . "Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13". United States. doi:.
@article{osti_133308,
title = {Analysis of complex repeat sequences within the spinal muscular atrophy (SMA) candidate region in 5q13},
author = {Davies, K.E. and Morrison, K.E. and Daniels, R.I.},
abstractNote = {We previously reported that the 400 kb interval flanked the polymorphic loci D5S435 and D5S557 contains blocks of a chromosome 5 specific repeat. This interval also defines the SMA candidate region by genetic analysis of recombinant families. A YAC contig of 2-3 Mb encompassing this area has been constructed and a 5.5 kb conserved fragment, isolated from a YAC end clone within the above interval, was used to obtain cDNAs from both fetal and adult brain libraries. We describe the identification of cDNAs with stretches of high DNA sequence homology to exons of {beta} glucuronidase on human chromosome 7. The cDNAs map both to the candidate region and to an area of 5p using FISH and deletion hybrid analysis. Hybridization to bacteriophage and cosmid clones from the YACs localizes the {beta} glucuronidase related sequences within the 400 kb region of the YAC contig. The cDNAs show a polymorphic pattern on hybridization to genomic BamH1 fragments in the size range of 10-250 kb. Further analysis using YAC fragmentation vectors is being used to determine how these {beta} glucuronidase related cDNAs are distributed within 5q13. Dinucleotide repeats within the region are being investigated to determine linkage disequilibrium with the disease locus.},
doi = {},
journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}