Homozygosity mapping: One more tool in the clinical geneticist's toolbox
Homozygosity mapping: One more tool in the clinical geneticist's toolbox
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DOI：
10.1097/gim.0b013e3181ceb95d
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发表时间：
2010-04-01
影响因子：
8.8
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
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作者：
Alkuraya, Fowzan S.
血缘关系增加了近亲繁殖的系数，这增加了在同等位基因状态下存在致病性突变的可能性。虽然已知这有增加常染色体隐性遗传病风险的不良结果，但这种现象也使纯合子作图成为人类遗传学近代史上最强大的基因发现策略。然而，纯合子作图也可以作为一个非常强大的工具，在临床遗传学设置以及。特别是，这种方法非常适合于遗传异质性条件和先天性代谢错误的设置，需要复杂的生化测试，可能不容易获得。这篇文章是为了强调从作者自己的临床遗传学实践使用说明性的临床例子这一策略的临床效用。中国生物医学工程杂志，2010,32(4):559 - 559。
Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state. Although this is known to have an adverse outcome by increasing the risk of autosomal recessive disorders, this very phenomenon has also made homozygosity mapping the most robust gene discovery strategy in the recent history of human genetics. However, homozygosity mapping can also serve as an extremely powerful tool in the clinical genetics setting as well. In particular, this method is highly suited in the setting of genetically heterogeneous conditions and inborn errors of metabolism that require sophisticated biochemical testing that may not be readily available. This article is meant to highlight the clinical utility of this strategy using illustrative clinical examples from the author's own clinical genetics practice. Genet Med 2010: 12(4): 236-239.