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隐性遗传病中 ,异常的细胞表型是由于缺乏正常的等位基因。这可以通过实验将正常等位基因导入突变细胞来纠正。当正常的等位基因表达 ,且其编码的蛋白产量足够多的情况下 ,异常的细胞表型能被纠正或逆转。隐性传递的 Bloom综合征 (BS)中异常体细胞表型特征产生于一种特殊类型的
Among recessive genetic diseases, abnormal cellular phenotype is due to the lack of normal alleles. This can be corrected experimentally by introducing the normal allele into a mutant cell. Abnormal cell phenotypes can be corrected or reversed when normal alleles are expressed and the amount of protein they encode is sufficient. Abnormal somatic phenotypic characteristics in implicitly transmitted Bloom syndrome (BS) arise from a special type of