McInnis M G, Chakravarti A, Blaschak J, Petersen M B, Sharma V, Avramopoulos D, Blouin J L, König U, Brahe C, Matise T C
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.
Genomics. 1993 Jun;16(3):562-71. doi: 10.1006/geno.1993.1231.
A genetic linkage map of human chromosome 21q (HC21q) containing 43 markers genotyped by the polymerase chain reaction in the CEPH pedigrees is presented. The markers placed on this map are highly polymorphic with an average heterozygosity of 61%. The average interval size of the markers localized at 1000:1 odds is 2.5 cM. The map has a total length of 65.5 cM, with male and female lengths of 47.7 and 83.3 cM, respectively. The genotypes used in the construction of this map were subjected to rigorous error checking, which is reflected in the shorter map length compared to previous maps; the estimated error rate in genotyping is less than 0.04%. As noted in previous linkage maps there is increased recombination in females on proximal HC 21q and in the male in a region near the telomere. This map of HC 21 represents a highly informative and dense meiotic linkage map and will be useful in linking disease phenotypes to loci on this chromosome.
本文展示了一张人类21号染色体长臂（HC21q）的遗传连锁图谱，该图谱包含通过聚合酶链反应在CEPH家系中进行基因分型的43个标记。此图谱上的标记具有高度多态性，平均杂合度为61%。定位在1000:1优势比下的标记平均间隔大小为2.5厘摩（cM）。该图谱全长65.5厘摩，男性和女性的长度分别为47.7厘摩和83.3厘摩。构建此图谱所使用的基因型经过了严格的错误检查，这体现在与先前图谱相比更短的图谱长度上；基因分型的估计错误率小于0.04%。如先前的连锁图谱所指出的，在近端HC 21q上女性的重组增加，而在端粒附近的一个区域男性的重组增加。这张HC 21图谱代表了一张信息丰富且密集的减数分裂连锁图谱，将有助于把疾病表型与该染色体上的基因座联系起来。
