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Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch‐Nyhan syndrome
Author(s) -
Renwick P. J.,
Birley A. J.,
McKeown C. M. E.,
Hultén M.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04060.x
Subject(s) - lesch–nyhan syndrome , hypoxanthine guanine phosphoribosyltransferase , genetics , hypoxanthine phosphoribosyltransferase , biology , locus (genetics) , restriction fragment length polymorphism , gene , adenine phosphoribosyltransferase , genomic dna , microbiology and biotechnology , enzyme , genotype , biochemistry , mutant , purine
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.