Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.
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.
D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D014960:X Chromosome