title: Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres.
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 degrees C for 15 or (ii) 30 min, and (iii) incubation in an alkaline lysis buffer for 30 min at 94 degrees C or (iv) at 65 degrees C for 10 min. The amplification percentages were 21, 67, 71 and 91% respectively.
authors.affiliation: Centre for Medical Genetics, Dutch-speaking Brussels Free University, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Sermon
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: Z P
authors.initials: ZP
authors.lastname: Nagy
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D001483:Base Sequence; D001755:Blastocyst / Q000502:physiology*; D001757:Blastomeres / Q000502:physiology*; D002021:Buffers; D016009:Chi-Square Distribution; D006358:Hot Temperature; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics*; D013997:Time Factors
chemical_list: D002021:Buffers