利用M1-PCR对长程基因组DNA进行直接分子单倍型分型。
Direct molecular haplotyping of long-range genomic DNA with M1-PCR.
作者信息
Ding Chunming, Cantor Charles R
机构信息
Bioinformatics Program and Center for Advanced Biotechnology, Boston University, 36 Cummington Street, Boston, MA 02215, USA.
出版信息
Proc Natl Acad Sci U S A. 2003 Jun 24;100(13):7449-53. doi: 10.1073/pnas.1232475100. Epub 2003 Jun 11.
Abstract
Haplotypes, combinations of several phase-determined polymorphic markers, are extremely valuable for studies of disease association and chromosome evolution. Here we describe a technique called M1-PCR (M for "multiplex" and 1 for "single-copy DNA molecules") that enables direct molecular haplotyping of several polymorphic markers separated by as many as 24 kb. A genomic DNA sample first is diluted to approximately single-copy. The haplotype is directly determined by simultaneously genotyping several polymorphic markers in the same reaction with a multiplex PCR and base extension reaction. This approach does not rely on pedigree data and does not require previous amplification of the entire genomic region containing the selected markers.
摘要
单倍型是几个相位确定的多态性标记的组合，对于疾病关联和染色体进化研究极为重要。在此，我们描述了一种称为M1-PCR的技术（M代表“多重”，1代表“单拷贝DNA分子”），该技术能够对相隔多达24 kb的几个多态性标记进行直接分子单倍型分析。首先将基因组DNA样品稀释至大约单拷贝。通过在同一反应中使用多重PCR和碱基延伸反应对几个多态性标记同时进行基因分型，直接确定单倍型。这种方法不依赖系谱数据，也不需要事先扩增包含所选标记的整个基因组区域。
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