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建立与人类1号染色体着丝粒相关的标记顺序:端粒-NRAS-NGFB-D1S189-D1S252-D1S440-D1S453-D1S514-着丝粒-D1S442-D1S498-端粒。

Establishment of the marker order pter-NRAS-NGFB-D1S189-D1S252-D1S440-D1S453-D1S514-CEN-D1S442-D1S498-qte r in relation to the centromere on human chromosome 1.

作者信息

Hoggard N, Brintnell B, Hey Y, Jones D, Weissenbach J, Mitchell E, Varley J

机构信息

CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK.

出版信息

Chromosome Res. 1995 Mar;3(2):137-8. doi: 10.1007/BF00710677.

Abstract

Recent developments in genetic linkage mapping of the human genome have generated a large number of short tandem repeat polymorphic markers (Weissenbach et al. 1992, Gyapay et al. 1994), and eventual integration of these markers into a physical map is a logical progression. A number of Généthon microsatellite (CA repeat) markers have been provisionally localized to 1p13, but their exact position with respect to other sequences is unknown. In order to confirm the order of these markers and their position with respect to known genes within 1p13 and the centromere, we have isolated yeast artificial chromosomes (YACs) corresponding to the markers and have carried out double and triple fluorescence in situ hybridization (FISH) studies. Knowledge of both the order of microsatellite markers and their integration with a physical map of known genes can be an essential component in analysis of disease loci such as human cancer, where regions of chromosomes showing high levels of loss of heterozygosity need to be mapped in detail.

摘要

人类基因组遗传连锁图谱的最新进展产生了大量短串联重复多态性标记(魏森巴赫等人,1992年;贾帕伊等人,1994年),将这些标记最终整合到物理图谱中是一个合乎逻辑的进展。一些吉内通微卫星(CA重复)标记已被临时定位到1p13,但它们相对于其他序列的确切位置尚不清楚。为了确认这些标记的顺序及其相对于1p13内已知基因和着丝粒的位置,我们分离了与这些标记对应的酵母人工染色体(YAC),并进行了双重和三重荧光原位杂交(FISH)研究。微卫星标记的顺序及其与已知基因物理图谱的整合知识可能是分析疾病位点(如人类癌症)的重要组成部分,在人类癌症中,需要详细绘制显示高杂合性缺失水平的染色体区域。

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