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人类第18号染色体的微卫星遗传连锁图谱。

A microsatellite genetic linkage map of human chromosome 18.

作者信息

Straub R E, Speer M C, Luo Y, Rojas K, Overhauser J, Ott J, Gilliam T C

机构信息

Department of Psychiatry, Columbia University, New York, New York.

出版信息

Genomics. 1993 Jan;15(1):48-56. doi: 10.1006/geno.1993.1008.

Abstract

We isolated nine new microsatellite markers from chromosome 18 and further characterized and mapped eight microsatellites developed in other laboratories. We have constructed a framework linkage map of chromosome 18 that includes 14 microsatellite markers (12 dinucleotide and 2 tetranucleotide) and 2 RFLP markers. Cytogenetic localization for the microsatellites was performed by PCR amplification of 18 somatic cell hybrids containing different deletions of chromosome 18. Twelve of the microsatellites and one of the RFLPs have heterozygosites greater than 70%. The average heterozygosity of the markers included in the map is 72%. In addition, we have made provisional placements of 3 more microsatellite markers and 2 more RFLP markers. The map lengths (in Kosambi centimorgans) are as follows: sex-averaged, 109.3 cM; male, 72.4 cM; female, 161.2 cM. The average distance between markers in the sex-averaged map is 7.3 cM, and the largest gap between markers is 16.7 cM. Analysis of the data for differences in the female:male map distance ratio revealed significant evidence for a constant difference in the ratio (chi 2 = 32.25; df = 1; P < 0.001; ratio = 2.5:1). Furthermore, there was significant evidence in favor of a variable female:male map distance ratio across the chromosome compared to a constant distance ratio (chi 2 = 27.78; df = 14; P = 0.015). To facilitate their use in genomic screening for disease genes, all of the microsatellite markers used here can be amplified under standard PCR conditions, and most can be used in duplex PCR reactions.

摘要

我们从18号染色体上分离出9个新的微卫星标记,并对其他实验室开发的8个微卫星进行了进一步的特征分析和定位。我们构建了一个18号染色体的框架连锁图谱,其中包括14个微卫星标记(12个二核苷酸和2个四核苷酸)以及2个RFLP标记。通过对包含18号染色体不同缺失的18个体细胞杂种进行PCR扩增,对微卫星进行了细胞遗传学定位。其中12个微卫星和1个RFLP的杂合度大于70%。该图谱中标记的平均杂合度为72%。此外,我们还对另外3个微卫星标记和2个RFLP标记进行了初步定位。图谱长度(以Kosambi厘摩计)如下:两性平均为109.3 cM;男性为72.4 cM;女性为161.2 cM。两性平均图谱中标记之间的平均距离为7.3 cM,标记之间的最大间距为16.7 cM。对雌性与雄性图谱距离比差异的数据进行分析,结果显示该比例存在显著恒定差异的证据(卡方 = 32.25;自由度 = 1;P < 0.001;比例 = 2.5:1)。此外,与恒定距离比相比,有显著证据支持整个染色体上雌性与雄性图谱距离比存在变化(卡方 = 27.78;自由度 = 14;P = 0.015)。为便于在疾病基因的基因组筛选中使用,此处使用的所有微卫星标记均可在标准PCR条件下进行扩增,并且大多数可用于双重PCR反应。

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