A PCR-based linkage map of human chromosome 1.

A PCR-based linkage map of human chromosome 1.
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基于 PCR 的人类 1 号染色体连锁图。

DOI:
10.1006/geno.1993.1054
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发表时间:
1993
期刊:
影响因子:
4.4
通讯作者:
Dracopoli,NC
Dracopoli,NC
中科院分区:
生物学3区
文献类型:
--
作者:
Engelstein,M;Hudson,TJ;Lane,JM;Lee,MK;Leverone,B;Landes,GM;Peltonen,L;Weber,JL;Dracopoli,NC

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利用38个简单序列重复(SSR)多态性开发了完全基于PCR分型标记的人类1号染色体遗传连锁图谱。这些SSR包括36个二核苷酸重复和2个四核苷酸重复。这些标记的平均杂合度为0.73,范围从0.52到0.95。使用多点连锁分析来开发这38个标记的图谱,其中每个位点的相对位置由似然比>1000:1支持。该图谱由D1 Z5 α-卫星多态性锚定在着丝粒上,图谱的末端由D1 Z2和D1 S68限定,这是CEPH第1号染色体联合图谱中最远端的位点。性别平均,男性和女性的地图延伸328,273和409厘米,分别。在性别平均图谱上标记间的平均距离为8 cM,最大间隔为32 cM。这张高信息量的PCR标记图谱将提供一种快速筛查人类1号染色体疾病基因的方法。
A genetic linkage map of human chromosome 1 based entirely on PCR-typable markers has been developed using 38 simple sequence repeat (SSR) polymorphisms. These SSRs include 36 dinucleotide repeats and 2 tetranucleotide repeats. The average heterozygosity at these markers was 0.73 and ranged from 0.52 to 0.95. Multipoint linkage analysis was used to develop a map of these 38 markers in which the relative placement of each locus is supported by likelihood odds >1000:1. This PCR-based map was anchored at the centromere by the D1Z5 α-satellite polymorphism, and the ends of the map were defined by D1Z2 and D1S68, which are the most distal loci in the CEPH consortium map of chromosome 1. The sex-averaged, male, and female maps extend for 328, 273, and 409 cM, respectively. The average distance between markers on the sex-averaged map is 8 cM, and the largest interval is 32 cM. This map of highly informative PCR-based markers will provide a rapid means of screening human chromosome 1 for the presence of disease genes.
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