胚胎移植前遗传学诊断（PGD）起源于90年代初，是怀孕的夫妇防止胎儿受到异常基因或染色体影响的一种有效措施。
PGD was first performed in the early 1990's as a way for couples to prevent the pregnancy of a child with genetic disease.
TSC也可以通过发现TSC1或TSC2基因上的致病性突变而得到诊断。
TSC can also be diagnosed by finding a change in either the TSC1 or TSC2 genes.
的突变在诊断或复发时获得的，和导致截断保守的氨基酸残基的组蛋白乙酰转移酶结构域的基因或有害的替代。
The mutations were either present at diagnosis or acquired at relapse, and resulted in truncated alleles or deleterious substitutions in conserved residues of the histone acetyltransferase domain.
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