Linkage-disequilibrium mapping without genotyping.
Linkage-disequilibrium mapping without genotyping.
复制标题
无需基因分型的连锁不平衡图谱。
DOI：
10.1038/ng0398-225
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Spielman,RS
中科院分区：
文献类型：
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作者：
Cheung,VG;Gregg,JP;Gogolin-Ewens,KJ;Bandong,J;Stanley,CA;Baker,L;Higgins,MJ;Nowak,NJ;Shows,TB;Ewens,WJ;Nelson,SF;Spielman,RS
基因组错配扫描 (GMS) 是一种无需基因分型或测序即可富集两个个体之间的血统同一性 (IBD) 区域的技术。通过杂交将 GMS 选择的 IBD 区域映射到含有来自感兴趣染色体的基因组 DNA 有序克隆的微阵列。在这里，我们使用先天性高胰岛素血症（HI）（一种常染色体隐性遗传疾病）证明了这种形式的连锁图谱的可行性和有效性，该疾病在德系犹太人中相对较高的频率表明存在创始人效应。负责的基因 (SUR1) 编码磺酰脲受体，该受体定位于染色体 11p15.1。我们证明，GMS 和 IBD 产物与 11 号染色体微阵列杂交的组合可以正确地将 HI 基因定位到 2 Mb 区域，从而无需基因分型即可证明连锁不平衡作图。
Genomic mismatch scanning (GMS) is a technique that enriches for regions of identity by descent (IBD) between two individuals without the need for genotyping or sequencing. Regions of IBD selected by GMS are mapped by hybridization to a microarray containing ordered clones of genomic DNA from chromosomes of interest. Here we demonstrate the feasibility and efficacy of this form of linkage-mapping, using congenital hyperinsulinism (HI), an autosomal recessive disease, whose relatively high frequency in Ashkenazi Jews suggests a founder effect. The gene responsible (SUR1) encodes the sulfonylurea receptor, which maps to chromosome 11p15.1. We show that the combination of GMS and hybridization of IBD products to a chromosome-11 microarray correctly maps the HI gene to a 2-Mb region, thereby demonstrating linkage-disequilibrium mapping without genotyping.