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高通量测序与罕见遗传病

High-throughput sequencing and rare genetic diseases.

作者信息

Makrythanasis P, Antonarakis S E

机构信息

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.

出版信息

Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9.

DOI:10.1159/000343941
PMID:23293577
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3531930/
Abstract

High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.

摘要

高通量测序极大地改变了对导致遗传疾病的基因的研究，目前正逐渐作为一种额外的基因诊断检测方法引入临床实践。本文讨论了当前关于新出现的技术、医学和伦理问题以及现有技术潜在最佳用途的争论。

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.杂合新生突变在伴有转换性偏瘫的儿童患者中的 ATP1A3 中：全外显子组测序基因鉴定研究。
Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
2
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.与视网膜色素变性和相关疾病相关的基因在普通人群中经常发生突变。
PLoS One. 2012;7(7):e41902. doi: 10.1371/journal.pone.0041902. Epub 2012 Jul 27.
3
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.靶向高通量测序在遗传异质性疾病诊断中的应用：Bardet-Biedl 和 Alström 综合征中的有效突变检测。
J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.
4
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.外显子组测序极端表型确定 DCTN4 是囊性纤维化慢性铜绿假单胞菌感染的修饰因子。
Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344.
5
Non-invasive prenatal measurement of the fetal genome.无创性产前胎儿基因组测量。
Nature. 2012 Jul 19;487(7407):320-4. doi: 10.1038/nature11251.
6
Exome sequencing can improve diagnosis and alter patient management.外显子组测序可提高诊断准确率并改变患者管理方式。
Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544.
7
Noninvasive whole-genome sequencing of a human fetus.对人类胎儿进行无创全基因组测序。
Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.孟德尔基因组医学中心：一项旨在鉴定罕见孟德尔疾病相关基因的新的大规模计划。
Am J Med Genet A. 2012 Jul;158A(7):1523-5. doi: 10.1002/ajmg.a.35470. Epub 2012 May 24.
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Return of results: not that complicated?结果反馈：没那么复杂？
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