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conversion of diploidie in haplodie for genetic diagnosis
conversion of diploidie in haplodie for genetic diagnosis
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机译:单倍体在单倍体中的转化用于遗传诊断
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摘要
Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.
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机译:哺乳动物细胞的二倍体特性使与遗传性疾病相关的突变的检测变得复杂。一个等位基因中存在的突变通常被另一等位基因的野生型序列所掩盖。可以从一次融合产生的体细胞杂种中的每个染色体中分离出各个等位基因。可以明确地分析来自杂种的核酸的突变。该方法用于检测两个先前无法进行基因诊断的致癌突变。研究的一个家族Warthin Family G是生物医学文献中描述的第一个患有遗传性结肠癌综合症的家庭。
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