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PMID: 2569270 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

American journal of human genetics ·Vol. 45 ·No. 2 ·1989-08-00 ·Pages 304-9

Dahl N, Goonewardena P, Malmgren H, Gustavson KH, Holmgren G, Seemanova E, Annerén G, Flood A, Pettersson U

Abstract

A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X chromosome. In the previous communication we describe a linkage study encompassing 16 fragile-X families and using U6.2 and five previously described polymorphic markers at Xq26-q28. One recombination event was observed between DXS304 and the fragile-X locus in 36 informative meioses. Combined with information from other reports, our results suggest the following order of the examined loci on Xq: cen-F9-DXS105-DXS98-FRAXA-DXS304-(DXS52-F8 -DXS15). The locus DXS304 is closely linked to FRAXA, giving a peak lod score of 5.86 at a corresponding recombination fraction of .00. On the basis of the present results, it is apparent that U6.2 is a useful probe for carrier and prenatal diagnosis in fragile-X families.

MeSH Terms

Chromosome Mapping Female Fragile X Syndrome/genetics Genetic Carrier Screening Genetic Linkage Genetic Markers Humans Male Pedigree Polymorphism, Genetic Polymorphism, Restriction Fragment Length Recombination, Genetic Sex Chromosome Aberrations/genetics X Chromosome

Chemicals

Genetic Markers

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Dahl N

Department of Medical Genetics, University of Uppsala, Sweden.

Goonewardena P

Malmgren H

Gustavson K H

Holmgren G

Seemanova E

Annerén G

Flood A

Pettersson U

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25 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1989-08-00

Pages

304-9

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683358

Subset

External Links

PubMed source PMC Full Text View journal details

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Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

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