Sermon K, Lissens W, Nagy Z P, Van Steirteghem A, Liebaers I
Centre for Medical Genetics, Dutch-speaking Brussels Free University, Belgium.
Hum Reprod. 1995 Aug;10(8):2214-7. doi: 10.1093/oxfordjournals.humrep.a136270.
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.
泰-萨克斯病是一种溶酶体贮积病，其最严重的形式会在婴儿期不可避免地导致死亡。我们开发了一种利用聚合酶链反应（PCR）技术进行植入前诊断的方法，通过该方法可以同时扩增出这种疾病中最常见的两种突变。我们在单个卵裂球上测试了这种方法，并比较了四种裂解方法：（i）在94℃水中煮沸15分钟或（ii）30分钟，以及（iii）在碱性裂解缓冲液中于94℃孵育30分钟或（iv）在65℃孵育10分钟。扩增百分比分别为21%、67%、71%和91%。
