A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study
A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study
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DOI：
10.1136/thx.2008.102996
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发表时间：
2009-04-01
期刊：
影响因子：
10
通讯作者：
Natsuhara, A.
中科院分区：
文献类型：
--
作者：
Ishihara, Y.;Hagiwara, K.;Natsuhara, A.
本文报告一例发生在近亲繁殖家庭的肺泡微石症。使用高密度单核苷酸多态性（SNP）阵列对患者的基因组DNA进行全基因组分析，发现SLC34A2处存在一个小的遗传内突变。结果表明，高密度SNP阵列具有即使在仅单个近交系患者的分析中也能鉴定隐性疾病基因的能力。
A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a single inbred patient.