Computer Assisted Analysis of L444P Alleles in Gaucher Disease

Authors

  • Cristina DRUGAN Department of Medical Biochemistry;
  • Tudor DRUGAN Department of Medical Informatics
  • Paula GRIGORESCU-SIDO Department of Pediatrics I University of Medicine and Pharmacy, Cluj-Napoca, Romania.
  • Gheorghe JEBELEANU Department of Medical Biochemistry;
  • Livia POENARU Department of Genetics, University Paris V, Paris, France
  • Catherine CAILLAUD Department of Genetics, University Paris V, Paris, France

Keywords:

Gaucher disease, Recombinant alleles, Sequence analysis, Genotype-phenotype correlations.

Abstract

Gaucher disease is the most prevalent lysosomal storage disease. Recent data confirmed its high frequency in Romanian population, too. 12 Gaucher patients have been identified so far in Romania, by specific enzyme assays  followed by the screening of the most prevalent mutations: N370S, L444P, 84GG and R463C. Samples containing the L444P mutation have been further analysed by automatic sequencing, for the characterisation of mutations D409H, A456P, V460V, which have been described either alone or in association, generating the recombinant alleles recNciI and recTL. We describe here a computer programme designed for the rapid analysis of the amplified DNA sequences and genotype assignment.

How to Cite

1.
DRUGAN C, DRUGAN T, GRIGORESCU-SIDO P, JEBELEANU G, POENARU L, CAILLAUD C. Computer Assisted Analysis of L444P Alleles in Gaucher Disease. Appl Med Inform [Internet]. 2011 Jan. 18 [cited 2024 Dec. 22];6(1):37-42. Available from: https://ami.info.umfcluj.ro/index.php/AMI/article/view/307

Issue

Vol. 6 No. 1 (1999)

Section

Articles

License

 Creative Commons License
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