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

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 an...

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Bibliographic Details
Published in:American journal of human genetics 1988-02, Vol.42 (2), p.380-389
Main Authors: ARVEILER, B, OBERLE, I, VINCENT, A, HOFKER, M. H, PEARSON, P. L, MANDEL, J. L
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Female
Fragile X Syndrome - genetics
Genetic Linkage
Genetic Markers
Genetics
Hematologic and hematopoietic diseases
Hemophilia B - genetics
Humans
Male
Mapping
Medical sciences
Pedigree
Platelet diseases and coagulopathies
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Sex Chromosome Aberrations - genetics
X Chromosome
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Summary: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.
ISSN:0002-9297
1537-6605