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长期以来 ,单基因遗传病的诊断主要靠临床观察和系列化学检查 ,但生化学检查要求有相应基因表达产物的体液或细胞 ,并对基因产物或代谢异常机理有所了解 ,但对绝大多数遗传病而言 ,目前还远未达到这种认识。各种类型的血友病 ,这些令人终生痛苦的疾病 ,都是由于凝血因子Ⅷ或凝
For a long time, the diagnosis of single-gene inherited diseases mainly depends on clinical observation and series of chemical tests. However, biochemical tests require body fluids or cells with corresponding gene expression products, and understand gene products or metabolic abnormalities. However, for the vast majority Genetic diseases, far from reaching this understanding. Various types of hemophilia, these life-long painful diseases, are due to coagulation factor Ⅷ or coagulation