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PMID: 2878939 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.

The Journal of clinical investigation ·Vol. 79 ·No. 1 ·1987-01-00 ·Pages 282-5

Silver DN, Lewis RA, Nussbaum RL

Abstract

A molecular linkage analysis of four large families with the Lowe oculocerebrorenal syndrome (LS) provided a subregional localization of LS to the distal long arm of the X chromosome at Xq24-q26. Probes from two loci that identify restriction fragment length polymorphisms (RFLPs) and map to Xq24-q26 showed no recombination with LS. A maximum likelihood recombination distance (theta) = 0.00 was obtained for DXS10 with the logarithm of the odds (lod) of 6.450. For DXS42, theta = 0.00 with a lod of 5.087. Assignment of the gene or genes for LS to Xq24-q26 has the potential of improving carrier detection and providing prenatal diagnosis in families at risk for the disease.

MeSH Terms
Chromosome Mapping Genetic Linkage Humans Oculocerebrorenal Syndrome/genetics Polymorphism, Restriction Fragment Length Renal Tubular Transport, Inborn Errors/genetics X Chromosome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Silver D N
Lewis R A
Nussbaum R L
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28 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI112795
Published
1987-01-00
Pages
282-5
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC424043
Subset
IM
Grants
NIGMS NIH HHS · GM-07229 · United States
External Links
PubMed source DOI: 10.1172/JCI112795 PMC Full Text View journal details
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