Institute of Human Genetics, Charité University Medicine Berlin, Berlin, Germany.
Eur J Hum Genet. 2013 Apr;21(4):367-72. doi: 10.1038/ejhg.2012.198. Epub 2012 Oct 3.
Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis--based on either SNP mapping or full-genome sequencing--is a very useful tool in prenatal diagnostics of diseases.
全基因组连锁分析是一种用于定位遗传性疾病的成熟工具。据我们所知，它尚未用于任何遗传疾病的产前诊断。我们介绍了一个患有严重隐性智力障碍综合征的家庭，母亲希望终止妊娠，以避免生下另一个患病的孩子。通过使用 Affymetrix（美国加利福尼亚州圣克拉拉）的 10k 芯片进行全基因组扫描，我们确定了疾病的单体型。在不知道确切的遗传缺陷的情况下，我们排除了胎儿患病的可能。这名妇女最终生下了一个健康的婴儿。我们建议，基于 SNP 作图或全基因组测序的全基因组连锁分析是疾病产前诊断的一种非常有用的工具。
