SIMULTANEOUS AMPLIFICATION OF THE 2 MOST FREQUENT MUTATIONS OF INFANTILE TAY-SACHS-DISEASE IN SINGLE BLASTOMERES

Tay-Sachs disease is a lysosomal storage disease, which in its most se vere form leads inexorably to death during infancy, We have developed a method for preimplantation diagnosis, using polymerase chain reactio n (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) inc ubation 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.