人类21号染色体上27个标记的遗传连锁图谱。

A genetic linkage map of 27 markers on human chromosome 21.

作者信息

Petersen M B, Slaugenhaupt S A, Lewis J G, Warren A C, Chakravarti A, Antonarakis S E

机构信息

Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

出版信息

Genomics. 1991 Mar;9(3):407-19. doi: 10.1016/0888-7543(91)90406-5.

DOI:10.1016/0888-7543(91)90406-5

PMID:1674496

Abstract

We have constructed a genetic linkage map of the long arm of human chromosome 21 comprising 27 DNA markers. This map is an updated version of that reported earlier by group (1989, Genomics 4: 579-591), which contained 17 DNA markers. The current markers consist of 10 genes and 17 anonymous sequences. Traditional methods (restriction fragment length polymorphisms) were used to map 25 of these markers, whereas 2 markers were studied by polymerase chain reaction amplification of (GT)n dinucleotide repeats. Linkage analysis was performed on 40 CEPH families using the computer program packages LINKAGE, CRI-MAP, and MAPMAKER. Recombination rates were significantly different between the sexes, with the male map being 132 cM and the female map being 161 cM, assuming Kosambi interference and a variable ratio of sex difference in recombination. Approximately one-half of the crossovers in either sex occur distally, in terminal band 21q22.3, which also contains 16 of the markers studied. The average distance between adjacent markers was 6 cM.

摘要

我们构建了一张包含27个DNA标记的人类21号染色体长臂遗传连锁图谱。该图谱是之前研究团队（1989年，《基因组学》4: 579 - 591）所报道图谱的更新版本，之前的图谱包含17个DNA标记。目前的标记包括10个基因和17个匿名序列。其中25个标记采用传统方法（限制性片段长度多态性）进行定位，而另外2个标记通过对(GT)n二核苷酸重复序列进行聚合酶链反应扩增来研究。使用计算机程序包LINKAGE、CRI - MAP和MAPMAKER对40个CEPH家系进行连锁分析。假设存在Kosambi干扰以及重组中性别差异的可变比例，两性之间的重组率存在显著差异，男性图谱长度为132厘摩，女性图谱长度为161厘摩。在任一性别中，大约一半的交叉发生在远端，即在末端带21q22.3，该区域也包含所研究的16个标记。相邻标记之间的平均距离为6厘摩。