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PMID: 1924290 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 88 ·No. 19 ·1991-10-01 ·Pages 8302-6

Poustka A, Dietrich A, Langenstein G, Toniolo D, Warren ST, Lehrach H

Abstract

We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kilobases between 8 and 8.7 Mb proximal of the Xq telomere.

Related Genes
F8 G6PD GABRA3
MeSH Terms
Blotting, Southern Chromosome Mapping DNA Probes Fragile X Syndrome/genetics Humans Repetitive Sequences, Nucleic Acid Restriction Mapping X Chromosome/ultrastructure
Chemicals
DNA Probes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Poustka A
Deutsches Krebsforschungszentrum, Institut für Virusforschung, Heidelberg, Federal Republic of Germany.
Dietrich A
Langenstein G
Toniolo D
Warren S T
Lehrach H
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37 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.88.19.8302
Published
1991-10-01
Pages
8302-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC52496
Subset
IM
Grants
NHGRI NIH HHS · HG00038 · United States
External Links
PubMed source DOI: 10.1073/pnas.88.19.8302 PMC Full Text View journal details
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