Comprehensive human genetic maps: Individual and sex-specific variation in recombination
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
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DOI：
10.1086/302011
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发表时间：
1998-09-01
影响因子：
9.8
通讯作者：
Weber, JL
中科院分区：
文献类型：
--
作者：
Broman, KW;Murray, JC;Weber, JL
基于来自8个CEPH家族的近100万个基因型构建了综合人类遗传图谱;它们纳入了> 8，000个短串联重复多态性（STRP），主要来自Gene-thon、人类连锁合作中心、犹他州标记开发组和马什菲尔德医学研究基金会。作为图谱萌芽过程的一部分，删除了0.08%的基因型，这些基因型导致紧密双重组体，并且很大程度上（如果不是全部）代表基因分型错误、突变或基因转换事件。最终地图的女性、男性和性别平均总长度分别为44摩根、27摩根和35摩根。鉴定了许多（267）组STRP，其代表完全相同的基因座，但独立开发并且具有不同的引物对。每个配子的重组事件总数的分布，在8个母亲的CEPH家庭，是显着不同的，这种变化是由于母亲的年龄。遗传距离的女性：男性比例在个体染色体上以非常一致的方式变化，在所有中部着丝粒染色体的着丝粒处具有峰值。新的连锁图谱加上许多额外的信息，包括用于为选定的标记子集构建可靠有序图谱的查询系统，可从Marshfield网站获得。
Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they incorporated >8,000 short tandem-repeat polymorphisms (STRPs), primarily from Gene-thon, the Cooperative Human Linkage Center,the Utah Marker Development Group, and the Marshfield Medical Research Foundation. As part of the map budding process, 0.08% of the genotypes that resulted in tight double recombinants and that largely, if not entirely, represent genotyping errors, mutations, or gene-conversion events were removed. The total female, male, and sex-averaged lengths of the final maps were 44, 27, and 35 morgans, respectively. Numerous (267) sets of STRPs were identified that represented the exact same loci yet were developed independently and had different primer pairs. The distributions of the total number of recombination events per gamete, among the eight mothers of the CEPH families, were significantly different, and this variation was not due to maternal age. The female:male ratio of genetic distance varied across individual chromosomes in a remarkably consistent fashion, with peaks at the centromeres of all metacentric chromosomes. The new linkage maps plus much additional information, including a query system for use in the construction of reliably ordered maps for selected subsets of markers, are available from the Marshfield Website.