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首页> 外文期刊>Genewatch : >A Complicated Inheritance-How do rare genetic disorders fit into the Amish way of life? Interview with Harold Cross
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A Complicated Inheritance-How do rare genetic disorders fit into the Amish way of life? Interview with Harold Cross

机译：复杂的遗传-罕见的遗传疾病如何适应阿米什人的生活方式？哈罗德·克罗斯访谈

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GeneWatch: Certain genetic disorders are more common, sometimes much more common, in some Amish communities. Could you say a bit about the scope of the problem and your work on it? Harold Cross: We're specifically interested in autosomal recessive disorders. For this sort of disorder, one genetic mutation on one chromosome usually does not cause a disease-you have to inherit the mutation from both sides, which means that both parents contribute the defective gene. That kind of situation, where both parents carry a single copy of the same rare mutation, is primarily present in groups of individuals who tend to marry others who are somewhat related to them, or at least come from the same "founder," as we call it, of a group. This may be nomads in Saudi Arabia, it may be enclaves of families in India or China, but in this country those conditions are met primarily by Amish and also some Mennonite groups, in communities that tend to marry among themselves and admit very few "outside" people. So what you end up having is what we call a "founder effect." Whenever a small group of individuals found a community, the descendants of these founders obviously carry these genes as well. So since there are relatively few founders, generally, that means if the founders had a recessive mutation and the group continues to intermarry and doesn't admit many outside people, it increases the chances that a male and female, each with the same recessive mutation, will meet each other. This is what leads to autosomal recessive diseases.
机译：GeneWatch：某些基因疾病在某些阿米什人社区中更为普遍，有时更为普遍。您能否谈一谈问题的范围及其工作？ Harold Cross：我们对常染色体隐性遗传疾病特别感兴趣。对于这种疾病，一条染色体上的一个基因突变通常不会引起疾病-您必须从两侧继承该突变，这意味着父母双方都贡献了有缺陷的基因。这种情况，父母双方都携带同一个罕见突变的单个拷贝，主要存在于那些倾向于嫁给与他们有某些亲缘关系的人，或者至少来自与我们相同的“创始人”的个人群体中。称呼它。这可能是沙特阿拉伯的游牧民族，也可能是印度或中国的家庭飞地，但是在这个国家，这些条件主要是由阿米什人和一些门诺派群体满足的，这些群体倾向于彼此结婚，并且很少接纳“外来者”。 ”人。因此，您最终拥有的就是所谓的“创始人效应”。每当一小群人找到一个社区时，这些创始人的后代显然也会携带这些基因。因此，由于创立者相对较少，通常，这意味着如果创立者具有隐性突变，并且该群体继续通婚并且不接纳许多外部人，则这会增加男性和女性（每个人都具有相同的隐性突变）的机会，彼此见面。这就是导致常染色体隐性遗传疾病的原因。

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    《Genewatch :》 |2013年第4期|共3页
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  • 正文语种 eng
  • 中图分类 遗传学;
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