title: Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.
abstract: Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome.
authors.affiliation: Regional Genetic Laboratory Service, East Birmingham NHS Hospital Trust, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Renwick
authors.forename: A J
authors.initials: AJ
authors.lastname: Birley
authors.forename: C M
authors.initials: CM
authors.lastname: McKeown
authors.forename: M
authors.initials: M
authors.lastname: Hultén
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002874:Chromosome Mapping; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase