Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Many mutations leading to human disease are the result of single DNA base pair changes that cannot be identified by Southern analysis. This has prompted the development of alternative assays for point mutation detection. The recently described
ribonuclease A
cleavage procedure, with a polyuridylic acid-paper affinity chromatography step, has been used to identify the mutational lesions in the
hypoxanthine phosphoribosyltransferase
(
HPRT
) messenger RNAs of patients with Lesch-Nyhan syndrome. Distinctive
ribonuclease A
cleavage patterns were identified in messenger RNA from 5 of 14 Lesch-Nyhan patients who were chosen because no
HPRT
Southern or Northern blotting pattern changes had been found. This approach now allows
HPRT
mutation detection in 50 percent of the cases of Lesch-Nyhan syndrome. The polyuridylic acid-paper affinity procedure provides a general method for analysis of low abundance messenger RNAs.
...
PMID:Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. 356 11
