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PMID: 2393020 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

American journal of human genetics ·Vol. 47 ·No. 3 ·1990-09-00 ·Pages 454-8

Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE

Abstract

The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial disease-to-marker analysis suggested linkage to three markers (DXYS2 [7b], DXS250 [GMGX22], and DXS3 [p19-2]) located in Xq21. All three exhibited the same maximum lod score of 2.3 at a maximum theta of .05. Multipoint analysis using LINKMAP and a set of four DNA markers (DXYS1-DXYS2-DXS3-DXS94) gave a multipoint lod score of 3.58 for a location of the Allan-Herndon syndrome near locus DXYS1 (pDP34). Therefore, our data indicate that the gene for the Allan-Herndon syndrome is likely located in Xq21.

MeSH Terms

Abnormalities, Multiple/genetics DNA Probes Face/abnormalities Female Genetic Linkage Genetic Markers Humans Intellectual Disability/genetics Lod Score Male Muscular Diseases/genetics Pedigree Syndrome X Chromosome

Chemicals

DNA Probes Genetic Markers

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Schwartz C E

Greenwood Genetic Center, SC 29646.

Ulmer J

Brown A

Pancoast I

Goodman H O

Stevenson R E

References (14)

14 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

1990-09-00

Pages

454-8

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683855

Subset

External Links

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Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

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