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Literature DB >> 1551676

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

T Lightfoot¹, R Joshi, G Nuki, F F Snyder.

Abstract

The change in DNA responsible for partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in three brothers has been determined by polymerase chain amplification and sequencing. An A-to-G substitution at base 155 in exon 3 predicts a change in aspartic acid 52 to glycine. Allele-specific polymerase chain amplification verified the presence of the mutation in genomic DNA and provides a means of direct diagnostic assay.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1992 PMID： 1551676 DOI： 10.1007/bf02265300

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

13 in total

1. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

Authors: S A Tarlé; B L Davidson; V C Wu; F J Zidar; J E Seegmiller; W N Kelley; T D Palella
Journal: Genomics Date: 1991-06 Impact factor: 5.736

2. A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.

Authors: D Simpson; R M Crosby; T R Skopek
Journal: Biochem Biophys Res Commun Date: 1988-02-29 Impact factor: 3.575

3. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors: R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal: Science Date: 1988-01-29 Impact factor: 47.728

4. A specific enzyme defect in gout associated with overproduction of uric acid.

Authors: W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal: Proc Natl Acad Sci U S A Date: 1967-06 Impact factor: 11.205

5. A simple and very efficient method for generating cDNA libraries.

Authors: U Gubler; B J Hoffman
Journal: Gene Date: 1983-11 Impact factor: 3.688

6. Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors: F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

1. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).

Authors: Y Yamada; H Goto; S Tamura; N Ogasawara
Journal: Jpn J Hum Genet Date: 1993-12

2. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.

Authors: J Tohyama; E Nanba; K Ohno
Journal: Hum Genet Date: 1994-02 Impact factor: 4.132

2 in total

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

1. Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

2. A method for specific cloning and sequencing of human hprt cDNA for mutation analysis.

3. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

4. A specific enzyme defect in gout associated with overproduction of uric acid.

5. A simple and very efficient method for generating cDNA libraries.

6. Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

7. Organization of the HPRT gene and related sequences in the human genome.

8. Human hypoxanthine-guanine phosphoribosyltransferase.

9. DNA sequencing with chain-terminating inhibitors.

10. Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.

1. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).

2. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.