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PMID: 2893549 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

American journal of human genetics ·Vol. 42 ·No. 2 ·1988-02-00 ·Pages 380-9

Arveiler B, Oberlé I, Vincent A, Hofker MH, Pearson PL, Mandel JL

Abstract

We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115). DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs. DXS105 is 8% recombination closer to the fragile-X locus than F9 (z[theta] = 14.6 at theta = .08 for the F9-DXS105 linkage) and should thus be a better marker for analysis of fragile-X families. However, the DXS105 locus appears to be still loosely linked to the fragile-X locus in some families. The multipoint estimation for recombination between DXS105 and FRAXA is .16 in our set of data. Our data indicate that the region responsible for the heterogeneity in recombination between F9 and the fragile-X locus is within the DXS105-FRAXA interval.

MeSH Terms
Chromosome Mapping Female Fragile X Syndrome/genetics Genetic Linkage Genetic Markers Hemophilia B/genetics Humans Male Pedigree Polymorphism, Genetic Polymorphism, Restriction Fragment Length Sex Chromosome Aberrations/genetics X Chromosome
Chemicals
Genetic Markers
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Arveiler B
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, U. 184 de l'INSERM, Strasbourg, France.
Oberlé I
Vincent A
Hofker M H
Pearson P L
Mandel J L
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1988-02-00
Pages
380-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1715257
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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