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

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 nea...

Full description

Saved in:
Bibliographic Details
Published in:American journal of human genetics 1990-08, Vol.47 (2), p.187-195
Main Authors: SUTHERS, G. K, HYLAND, V. J, BAKER, E, OOSTRA, B. A, DAHL, N, WILSON, P. J, HOPWOOD, J. J, SUTHERLAND, G. R, CALLEN, D. F, OBERLE, I, ROCCHI, M, THOMAS, N. S, MORRIS, C. P, SCHWARTZ, C. E, SCHMIDT, M, ROPERS, H. H
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Cell Line
Chromosome Banding
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Cricetinae
DNA
DNA Probes
Female
Fragile X Syndrome - genetics
Genetic Markers
Humans
Hybrid Cells
Male
Medical genetics
Medical sciences
Mice
Mutation
Original
Restriction Mapping
Sex Chromosome Aberrations - genetics
X Chromosome
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0002-9297
1537-6605