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Human Genetics

, Volume 94, Issue 2, pp 136–140 | Cite as

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

  • Yoji Hara
  • Panos Ioannou
  • Anthi Drousiotou
  • Goula Stylianidou
  • Violetta Anastasiadou
  • Kunihiko Suzuki
Original Investigation

Abstract

Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole population, and has been culturally and socially isolated. Cultured fibroblasts from a patient from this inbred group showed a β-hexosaminidase β subunit mRNA of apparently the normal size but of reduced quantity. A mutational analysis of cDNA obtained by polymerase chain reaction amplification of mRNA showed a deletion of A at nt 76 (counted from A of the initiation codon, ATG). The deletion results in a frame shift and a premature termination within 20 amino acids from the N-terminus of the normal mature enzyme protein. The patient was homozygous for the deletion. The 5′-end of the gene showed many discrepancies from the previously published sequence. We consider that these differences are probably polymorphisms of little functional significance, because the patient's fibroblasts generate decreased but stable mRNA and because some of these base changes were also found in the genes from control fibroblasts. An extensive evaluation of the prevalence of this mutant allele in this community is being initiated.

Keywords

Codon Mutation Analysis Polymerase Chain Reaction Amplification Functional Significance Mutant Allele 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Yoji Hara
    • 1
  • Panos Ioannou
    • 2
  • Anthi Drousiotou
    • 2
  • Goula Stylianidou
    • 2
  • Violetta Anastasiadou
    • 2
  • Kunihiko Suzuki
    • 1
  1. 1.Brain and Development Research Center CB No. 7250, 311 BDRC, Departments of Neurology and PsychiatryUniversity of North Carolina School of MedicineChapel HillUSA
  2. 2.The Cyprus Institute of Neurology & GeneticsNicosiaCyprus

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