Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements.
Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements.
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当代生物伦理学的潮流。
DOI：
10.1111/j.1748-720x.2012.00731.x
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Probst,FrankJ
中科院分区：
文献类型：
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作者：
McGuire,AmyL;Wang,MelodyJ;Probst,FrankJ
越来越多的基因组分析被用于诊断儿童发育迟缓或畸形的面部特征暗示先天性疾病。基因检测已经迅速发展，我们今天使用的全基因组检测与过去十年更具针对性的单基因检测有很大不同。染色体微阵列分析（CMA）现在是多重出生缺陷儿童，智力障碍儿童（包括自闭症）和具有不符合已知疾病的不寻常症状的儿童的一线测试。目前临床上有三种类型的CMA。通过基于寡核苷酸阵列的比较基因组杂交（aCGH）的CMA将来自患者DNA的杂交信号与阵列上的每个寡核苷酸的参考DNA样品的杂交信号进行比较。根据特定的阵列，这可以从数万到数十万个寡核苷酸的范围。
Increasingly, genomic analysis is being utilized to diagnose children with developmental delay or dysmorphic facial features suggestive of a congenital disorder. Genetic testing has rapidly evolved, and the genome-wide tests that we use today are significantly different from the more targeted single-gene tests of the last decade. Chromosomal microarray analysis (CMA) is now a first line test for children with multiple birth defects, children with intellectual impairment (including autism), and children with an unusual constellation of symptoms that do not fit with a known disease. There are three types of CMA that are currently clinically available. CMA by oligonucleotide array-based comparative genomic hybridization (aCGH) compares the hybridization signal from the patient's DNA to that of a reference DNA sample for each oligonucleotide on the array. Depending on the specific array, this can range from tens of thousands to hundreds of thousands of oligonucleotides.