通过等位基因特异性长程PCR对相距10 kb的遗传标记进行分子单倍型分型。
Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR.
作者信息
Michalatos-Beloin S, Tishkoff S A, Bentley K L, Kidd K K, Ruano G
机构信息
BIOS Laboratories, New Haven, CT 06511, USA.
出版信息
Nucleic Acids Res. 1996 Dec 1;24(23):4841-3. doi: 10.1093/nar/24.23.4841.
Abstract
Haplotypes, combinations of polymorphic markers in a chromosome, are critical for genome diversity research. However, their utility in population samplings is compromised by uncertain linkage phase determinations from unrelated individuals. Molecular haplotyping accomplishes direct phase determination by generation of hemizygous templates from diploid genomic samples. We report molecular haplotyping by allele-specific long-range PCR of two markers 9.5 kb apart at the CD4 locus: a bi-allelic Alu deletion and a multi-allelic repeat. We verified CD4 molecular haplotypes by classical Mendelian analysis. Molecular haplotyping should prove useful in mapping disease genes and in establishing founder effects.
摘要
单倍型，即染色体中多态性标记的组合，对于基因组多样性研究至关重要。然而，在群体抽样中，由于无关个体的连锁相确定存在不确定性，其效用受到了影响。分子单倍型分型通过从二倍体基因组样本中生成半合子模板来完成直接的相确定。我们报告了通过对CD4位点上相距9.5 kb的两个标记进行等位基因特异性长程PCR进行分子单倍型分型：一个双等位基因Alu缺失和一个多等位基因重复。我们通过经典孟德尔分析验证了CD4分子单倍型。分子单倍型分型在疾病基因定位和建立奠基者效应方面应会被证明是有用的。
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