Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome
| Autor: | Masataka Arima, Norikazu Shimizu, Tsugutoshi Aoki, Hiroshi Konomi |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Male
Hypoxanthine Phosphoribosyltransferase congenital hereditary and neonatal diseases and abnormalities Lesch-Nyhan Syndrome DNA Mutational Analysis Biology Exon Japan medicine Humans Allele Child Southern blot Genetics Genetic Carrier Screening medicine.disease Molecular biology Pedigree Blot Blotting Southern Hypoxanthine-guanine phosphoribosyltransferase Pediatrics Perinatology and Child Health Female Chromosome Deletion Restriction fragment length polymorphism DNA Probes Lesch–Nyhan syndrome Polymorphism Restriction Fragment Length |
| Zdroj: | Pediatrics International. 38:36-40 |
| ISSN: | 1328-8067 |
| DOI: | 10.1111/j.1442-200x.1996.tb03432.x |
| Popis: | The Lesch-Nyhan syndrome results as a consequence of a severe deficiency of functional activity of purine salvage enzyme, hypoxanthine phosphoribosyltransferase (HPRT). We performed Southern blot analysis for five patients and their families using full length cDNA of the HPRT gene as a probe. Pst I digested Southern blot analysis revealed a large deletion that included exon 2 in patient 3. The size of this deletion was about 4.4 Kb. The mother of this patient had the same mutated allele and a normal one (heterozygote). This type of mutation from a Lesch-Nyhan syndrome patient has not been previously reported. The restriction fragment length polymorphism (RFLP) pattern was analyzed by Bam HI digested Southern blot analysis for one family who had no major gene abnormality. We determined from this analysis that the sister of the patient was a Lesch-Nyhan syndrome carrier and the fetus (brother) was normal for HPRT activity. This study shows RFLP analysis is still useful for carrier detection and prenatal diagnosis of Lesch-Nyhan syndrome. |
| Databáze: | OpenAIRE |
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