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PMID: 2378346 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.

American journal of human genetics ·Vol. 47 ·No. 2 ·1990-08-00 ·Pages 187-95

Suthers GK, Hyland VJ, Callen DF, Oberle I, Rocchi M, Thomas NS, Morris CP, Schwartz CE, Schmidt M, Ropers HH

Abstract

The fragile X syndrome is a very common disorder, but there has been little progress toward isolating the fragile X mutation (FRAXA). We describe a panel of 14 somatic cell hybrid lines, lymphoblastoid cell lines, and peripheral lymphocytes with X-chromosome translocation or deletion breakpoints near FRAXA. The locations of the breakpoints were defined with 16 established probes between pX45d (DXS100) and St14-1 (DXS52). Seven of the cell lines had breakpoints between the probes RN1 (DXS369) and U6.2 (DXS304), which flank FRAXA at distances of 3-5 centimorgans. The panel of cell lines was used to localize 16 new DNA probes in this region. Six of the probes-VK16, VK18, VK23, VK24, VK37, and VK47--detected loci near FRAXA, and it was possible to order both the X-chromosome breakpoints and the probes in relation to FRAXA. The order of probes and loci near FRAXA is cen-RN1,VK24-VK47-VK23-VK16,FRAXA-++ +VK21A-VK18-IDS-VK37-U6.2-qter. The breakpoints near FRAXA are sufficiently close together that probes localized with this panel can be linked on a large-scale restriction map by pulsed-field gel electrophoresis. This panel of cell lines will be valuable in rapidly localizing other probes near FRAXA.

MeSH Terms
Animals Cell Line Chromosome Banding Cricetinae DNA Probes Female Fragile X Syndrome/genetics Genetic Markers Humans Hybrid Cells Male Mice Mutation Restriction Mapping Sex Chromosome Aberrations/genetics X Chromosome
Chemicals
DNA Probes Genetic Markers
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Suthers G K
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
Hyland V J
Callen D F
Oberle I
Rocchi M
Thomas N S
Morris C P
Schwartz C E
Schmidt M
Ropers H H
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-08-00
Pages
187-95
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683725
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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