Simultaneous amplification of the two most frequent mutations of infantile tay-sachs disease in single blastomeres

K. Sermon, W. Lissens, Z. P. Nagy, A. Van Steirteghem, I. Liebaers

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Tay-Sachs disease is a lysosomal storage disease, which in its most severe form leads inexorably to death during infancy. We have developed a method for preimplantation diagnosis, using polymerase chain reaction (PCR) technology, by which the two most frequent mutations occurring in this disease can be amplified simultaneously. We have tested this method on single blastomeres and have compared four lysis methods: (i) boiling in water at 94°C for 15 or (ii) 30 min, and (iii) incubation in an alkaline lysis buffer for 30 min at 94°C or (iv) at 65°C for 10 min. The amplification percentages were 21, 67, 71 and 91% respectively.

Original languageEnglish
Pages (from-to)2214-2217
Number of pages4
JournalHuman Reproduction
Volume10
Issue number8
DOIs
Publication statusPublished - Aug 1995

Keywords

  • Blastomeres
  • Polymerase chain reaction
  • Preimplantation diagnosis
  • Tay-Sachs disease

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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