Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes

I Okabe; O Attree; L C Bailey; D L Nelson; R L Nussbaum

doi:10.1007/BF01799611

Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes

J Inherit Metab Dis. 1992;15(4):526-31. doi: 10.1007/BF01799611.

Authors

I Okabe¹, O Attree, L C Bailey, D L Nelson, R L Nussbaum

Affiliation

¹ Howard Hughes Medical Institute Laboratory, University of Pennsylvania School of Medicine, Philadelphia 19104.

PMID: 1528013
DOI: 10.1007/BF01799611

Abstract

The Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, muscular hypotonia, mental retardation, and Fanconi syndrome of the renal tubules. A pair of yeast artificial chromosomes (YACs) that span the Xq25-q26 translocation breakpoint in a female with OCRL were used as probes to screen cDNA libraries made from bovine lens and human kidney. The methods used to prepare the YACs as probes and to screen the libraries are presented in detail. Two different transcripts were found that map to the region around the Xq25-q26 breakpoint. These transcripts are now being studied to determine whether one or the other is a candidate gene for OCRL.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Southern
Chromosomes, Fungal*
DNA / isolation & purification*
Female
Gene Library
Genome, Human
Humans
Oculocerebrorenal Syndrome / genetics*
Translocation, Genetic*
X Chromosome*

Substances

DNA