Gen M W, Parry P J, Ning Y, Evans G A
Molecular Genetics Laboratory, Salk Institute for Biological Studies, La Jolla, California 92037.
Genomics. 1993 Sep;17(3):770-2. doi: 10.1006/geno.1993.1405.
A tetrameric repeat sequence (GATA)n was identified by random DNA sequencing of chromosome 11-specific cosmid clones and located at 11p15.3 by fluorescence in situ hybridization. Oligonucleotide primers flanking the repetitive unit were used to amplify the DNA using the polymerase chain reaction (PCR) and this repetitive element was shown to be highly polymorphic and inherited in typical Mendelian fashion. Analysis of amplification products containing the repetitive element from 45 unrelated Caucasian individuals and five families showed at least five alleles at this locus, ranging from 227 to 249 bases in length. This polymorphism may serve as a useful PCR-detectable genetic marker for 11p15.3, a landmark for disease gene isolation, and a locus for identity testing.
通过对11号染色体特异性黏粒克隆进行随机DNA测序,鉴定出一个四聚体重复序列(GATA)n,并通过荧光原位杂交将其定位在11p15.3。使用位于重复单元两侧的寡核苷酸引物,通过聚合酶链反应(PCR)扩增DNA,结果显示该重复元件具有高度多态性,并以典型的孟德尔方式遗传。对45名无关的高加索个体和5个家族中含有该重复元件的扩增产物进行分析,结果显示该位点至少有5个等位基因,长度在227至249个碱基之间。这种多态性可作为一种有用的PCR可检测遗传标记,用于11p15.3,这是疾病基因分离的一个标志,也是身份检测的一个位点。