利用多态性（AC）n二核苷酸重复序列将D21S171定位到人类21号染色体长臂远端。
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat.
作者信息
Petersen M B, Weber J L, Slaugenhaupt S A, Kwitek A E, McInnis M G, Chakravarti A, Antonarakis S E
机构信息
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
出版信息
Hum Genet. 1991 Aug;87(4):401-4. doi: 10.1007/BF00197156.
An (AC)n repeat within the anonymous DNA sequence D21S171 was shown to be highly polymorphic in members of the 40 Centre d'Etude du Polymorphisme Humaine (CEPH) families. Ten different alleles at this marker locus were detected by electrophoresis on polyacrylamide gels of DNA amplified by the polymerase chain reaction (PCR) using primers flanking the (AC)n repeat. The observed heterozygosity was 66%. PCR amplification of DNA from somatic cell hybrids mapped D21S171 to human chromosome 21, and linkage analysis localized this marker close to the loci CD18, PFKL, D21S113 and D21S112 in chromosomal band 21q22.3. In CEPH family 12 a de novo allele has been observed in a maternally derived chromosome.
在匿名DNA序列D21S171中的一个(AC)n重复序列在40个人类多态性研究中心（CEPH）家族成员中显示出高度多态性。使用位于(AC)n重复序列两侧的引物，通过聚合酶链反应（PCR）扩增DNA，然后在聚丙烯酰胺凝胶上进行电泳，在该标记位点检测到了10个不同的等位基因。观察到的杂合度为66%。对体细胞杂种DNA进行PCR扩增，将D21S171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中靠近CD18、PFKL、D21S113和D21S112位点的位置。在CEPH家族12中，在一条母源染色体上观察到一个新生等位基因。
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