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Here the unique thing was that there's a restriction site inside that is present in normal DNA and not present in sickle DNA.
刚才例子中,特性就是在正常的基因中,有酶切位点,而在患者的基因中却没有
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It's a single gene defect and we know exactly where the genetic defect is in sickle cell.
是一种单基因缺陷,而且我们准确地知道,镰状红细胞贫血的基因缺陷在哪里
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The absence of this smaller region tells you that this sample came from a sickle patient.
小片段的缺失就能告诉你,该样本是取自病人的
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It's on the gene for hemoglobin and the hemoglobin that you produce if you have sickle cell anemia is not quite right because there's one base difference.
这个缺陷基因和血红蛋白有关,如果你有镰状红细胞贫血症,那你所产生的血红蛋白就不太正常,因为这里有一个碱基不同
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Sickle cell anemia is a disease that affects a subset of the population.
镰状红细胞贫血症,是一种作用于特定人群的疾病
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Here's the difference between normal hemoglobin and sickle hemoglobin, I can make - I can see a chemical difference, I can exploit it, how can I find it?
正常血红蛋白和镰状红细胞贫血的,血红蛋白有不同之处,我能够--我能看出有化学差异,我能去探寻差异,那么我怎么找到它呢
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We talked about sickle cell anemia last time, that's an example.
上次我们讲过镰刀状贫血病,那就是一例
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This particular example involves the gene for sickle cell anemia.
本例子中就包括镰状红细胞贫血症的基因
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If this was a sickle patient, so they had this gene instead it wouldn't get cut and when I went to look for that presence of that gene on this gel, it would appear as one large segment instead of a large one and a smaller one.
而如果是个镰状红细胞贫血的病人,他们的基因是不会被限制酶切割的,因此他们基因的凝胶电泳结果就不会呈现,一大一小的结果,而只有一个大的片段
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How could I identify in a chromosomal DNA sample whether the sickle gene is present?
那我该怎么确定某染色体DNA样本中,是否存在这种致病基因呢
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If I took this same restriction enzyme and tried to cut the chromosomal DNA of a sickle patient, it wouldn't cut at that point because the wrong sequence is there.
而如果我用同样的限制酶,去切割病人的染色体DNA,那该酶是不会起作用的,因为基因序列不对
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In a normal cell DNA that DNA in the normal cell - this DNA gets cut by the restriction enzyme, so the sickle gene ends up - so that hemoglobin gene ends up in two pieces.
一个正常细胞的DNA,正常细胞里的DNA,会被限制酶所剪切,因此镰状血红蛋白基因--,不对,是正常血红蛋白基因被切成两段
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