Lewis J G, Weber J L, Petersen M B, Slaugenhaupt S A, Kwitek A, May P E, Warren A C, Chakravarti A, Antonarakis S E
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Genomics. 1990 Oct;8(2):400-2. doi: 10.1016/0888-7543(90)90300-j.
A (GT)n repeat within the anonymous DNA sequence D21S156 was shown to be highly polymorphic in DNA from members of the 40 CEPH families. At least 12 alleles of this locus were recognized by electrophoresis on polyacrylamide gels of DNA amplified by the polymerase chain reaction (PCR) using primers flanking the (GT)n repeat. The polymorphism information content was 0.82. PCR amplification of DNA from somatic cell hybrid lines mapped D21S156 to human chromosome 21 and linkage analysis localized this marker close to the loci ETS2, D21S3, and HMG14 on chromosomal band 21q22.3. This polymorphism is highly informative and can serve as an anchor locus for human chromosome 21.
在匿名DNA序列D21S156中的一个(GT)n重复序列在40个CEPH家族成员的DNA中显示出高度多态性。使用位于(GT)n重复序列两侧的引物,通过聚合酶链反应(PCR)扩增DNA后,在聚丙烯酰胺凝胶上进行电泳,该位点至少识别出12个等位基因。多态性信息含量为0.82。对体细胞杂交系DNA进行PCR扩增,将D21S156定位到人类21号染色体上,连锁分析将该标记定位在染色体带21q22.3上的ETS2、D21S3和HMG14位点附近。这种多态性具有很高的信息价值,可作为人类21号染色体的一个锚定位点。