Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D)

A. J. Walley*, I. Ellis, A. Harris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Summary. Three novel point mutations were detected in the glucocerebrosidase gene of three unrelated Gaucher's disease patients by direct sequencing of PCR products. The first is a C to G change at position 4263 in the genomic sequence (exon 7) which results in a proline to arginine change at position 266 in the mature enzyme (P266R). The second is a G to C change at position 5276 in the genomic sequence (exon 8) which results in an aspartic acid to histidine change at position 315 (D315H), The third is a C to A change at position 5286 in the genomic sequence (exon 8) which results in an alanine to aspartic acid change at position 318 (A318D). The first mutation destroys an AvaII restriction endonuclease site, the second creates a BspM I site and the third creates a BamH I site.

Original languageEnglish (US)
Pages (from-to)330-332
Number of pages3
JournalBritish Journal of Haematology
Volume91
Issue number2
DOIs
StatePublished - Oct 1995

Keywords

  • Gaucher's disease
  • glucocerebrosidase
  • point mutation

ASJC Scopus subject areas

  • Hematology

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