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通过将180个遗传标记整合到人类第19号染色体的度量物理图谱中确定的性别特异性低重组和高重组区域。

Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19.

作者信息

Mohrenweiser H W, Tsujimoto S, Gordon L, Olsen A S

机构信息

Human Genome Center, Lawrence Livermore National Laboratory, California 94550, USA.

出版信息

Genomics. 1998 Jan 15;47(2):153-62. doi: 10.1006/geno.1997.5097.

Abstract

The order of and physical distance between 180 polymorphic markers, many from the Généthon and CHLC genetic maps, have been determined through inclusion of probe-positive cosmids in the metric physical map of human chromosome 19. The markers incorporated into the physical map include 38 genetic markers with heterozygosities of > 0.8 and approximately 120 markers with heterozygosities of > 0.60. The average distance between markers in this integrated map is approximately 320 kb. Clustering of markers is noted in several regions of the chromosome; only 11 intervals exist where the distance between markers is greater than 1 Mb, with the largest gap being 1.6 Mb. The ratio of sex-average genetic distance from the Généthon and CHLC genetic linkage maps to physical distance in the metric map is approximately 1.7 cM/Mb for the entire chromosome but ranges from 4 cM/Mb across the telomeric bands to 1 cM/Mb for the centromeric cytogenetic bands. The recombination distance in males is approximately twice that of females in the most telomeric bands but is only 10-25% of the activity observed in females in the more centromeric bands. Seven regions along the chromosome are noted where the recombination distance between markers in one sex is greater than 10 times the recombination distance in the other sex. The integration of genetic markers into the high-resolution physical map of human chromosome 19 provides a framework for isolation of disease genes and resources for studies of genome organization, such as regions of interesting recombinational activity.

摘要

通过将探针阳性的黏粒纳入人类19号染色体的度量物理图谱,已确定了180个多态性标记的顺序及其物理距离,其中许多标记来自Généthon和CHLC遗传图谱。纳入物理图谱的标记包括38个杂合度大于0.8的遗传标记和约120个杂合度大于0.60的标记。在这个整合图谱中,标记之间的平均距离约为320 kb。在染色体的几个区域发现了标记的聚集现象;只有11个区间的标记间距离大于1 Mb,最大间隔为1.6 Mb。从Généthon和CHLC遗传连锁图谱得到的性别平均遗传距离与度量图谱中物理距离的比率,对于整个染色体约为1.7 cM/Mb,但从端粒带的4 cM/Mb到着丝粒细胞遗传带的1 cM/Mb不等。在最末端的带中,男性的重组距离约为女性的两倍,但在更靠近着丝粒的带中,仅为女性所观察到活性的10% - 25%。沿着染色体发现了7个区域,其中一个性别的标记间重组距离大于另一个性别重组距离的10倍。将遗传标记整合到人类19号染色体的高分辨率物理图谱中,为疾病基因的分离提供了一个框架,并为基因组组织研究提供了资源,如具有有趣重组活性的区域。

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