Integration of the cytogenetic map with the draft human genome sequence
Integration of the cytogenetic map with the draft human genome sequence
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DOI：
10.1093/hmg/ddg113
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发表时间：
2003-05-01
影响因子：
3.5
通讯作者：
Haussler, D
中科院分区：
文献类型：
--
作者：
Furey, TS;Haussler, D
化学染色中期染色体导致交替的深色和浅色带型，提供了一种工具，通过该工具可以识别来自病变细胞的染色体异常。这些畸变在染色体区域的定位提供了哪些基因或哪些基因可能导致特定疾病的线索。随着人类基因组的测序，确定这些细胞遗传学条带在序列中的位置变得至关重要，以便利用现在锚定到序列的大量信息，特别是基因的位置。细胞遗传学条带的分子基础还不清楚，因此不能仅根据序列信息确定其位置。我们开发了一种动态规划算法，该算法采用类似于9500个荧光原位杂交实验的结果来近似2002年6月版本的人类基因组序列草案中850个高分辨率条带的位置。这些带的预测支持以前确定的带染色强度和染色体的某些结构特征，即GC含量，重复结构含量，CpG岛密度，基因密度和凝聚度之间的相关性。
Chemically staining metaphase chromosomes resulting in an alternating dark and light banding pattern provide a tool by which abnormalities in chromosomes from diseased cells can be identified. The localization of these aberrations to a chromosomal region provides clues as to which gene or genes may contribute to a particular disease. With the sequencing of the human genome, it became critical to determine the positions of these cytogenetic bands within the sequence in order to take advantage of vast amount of information now anchored to the sequence, especially the locations of genes. The molecular basis of cytogenetic bands is not well understood, therefore their positions cannot be determined solely based on sequence information. We developed a dynamic programming algorithm that employs results from similar to9500 fluorescence in situ hybridization experiments to approximate the locations of the 850 high-resolution bands in the June 2002 version of the draft human genome sequence. These band predictions support previously identified correlations between band stain intensity and certain structural characteristics of chromosomes, namely GC content, repeat structure content, CpG island density, gene density and degree of condensation.