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人类染色体1p35 - p36的综合转录图谱

An integrated transcript map of human chromosome 1p35-p36.

作者信息

Jensen S J, Sulman E P, Maris J M, Matise T C, Vojta P J, Barrett J C, Brodeur G M, White P S

机构信息

Division of Oncology, The Children's Hospital of Philadelphia, Pennsylvania.

出版信息

Genomics. 1997 May 15;42(1):126-36. doi: 10.1006/geno.1997.4714.

Abstract

The distal short arm of human chromosome 1 (1p) is rearranged in a variety of malignancies, and several genetic diseases also map to this region. We have constructed an integrated transcript map to precisely define the positions of genes and expressed sequence tags (ESTs) previously mapped to 1p35-p36, a region spanning approximately 40 Mb. To anchor the integrated map, a framework genetic map was constructed with 24 genetic markers and a marker order of 1000:1 odds, yielding an average resolution of 2.8 cM. An additional 106 genetic markers were localized relative to the framework genetic map. To place markers more precisely within 1p35-p36, a chromosome 1-specific, radiation-reduced hybrid (RH) panel was created. Individual DNA fragments of the RH panel were identified and ordered by PCR with the framework genetic map. A total of 250 markers, including 142 genes and ESTs, were mapped by PCR against the RH panel. The map has an observed resolution of 800 kb, and the results closely match and more precisely define previous mapping information for most markers. This map will help to identify candidate genes for genetic diseases mapping to distal 1p and is fully integrated with existing genetic and RH maps of the human genome.

摘要

人类1号染色体(1p)的远端短臂在多种恶性肿瘤中发生重排,并且几种遗传疾病也定位于该区域。我们构建了一个整合转录图谱,以精确确定先前定位于1p35 - p36(一个跨度约40 Mb的区域)的基因和表达序列标签(EST)的位置。为了锚定整合图谱,构建了一个框架遗传图谱,其中包含24个遗传标记,标记顺序的优势比为1000:1,平均分辨率为2.8 cM。另外106个遗传标记相对于框架遗传图谱进行了定位。为了在1p35 - p36内更精确地定位标记,创建了一个1号染色体特异性的辐射减少杂种(RH)板。通过与框架遗传图谱进行PCR,对RH板的各个DNA片段进行鉴定和排序。通过针对RH板进行PCR,共定位了250个标记,包括142个基因和EST。该图谱的观测分辨率为800 kb,结果与大多数标记的先前定位信息紧密匹配且更精确地进行了定义。该图谱将有助于鉴定定位于1p远端的遗传疾病的候选基因,并且与人类基因组现有的遗传图谱和RH图谱完全整合。

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