The DNA sequence of human chromosome 21
The DNA sequence of human chromosome 21
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DOI：
10.1038/35012518
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发表时间：
2000-05-18
期刊：
影响因子：
64.8
通讯作者：
Groner, Y
中科院分区：
文献类型：
--
作者：
Hattori, M;Fujiyama, A;Groner, Y
21号染色体是人类最小的常染色体。21号染色体的额外拷贝会导致唐氏综合症，这是最常见的导致严重智力迟钝的遗传原因，每700个活产儿中就有1个患有唐氏综合症。一些单基因疾病的匿名位点和常见复杂疾病的易感性也被定位到这条染色体上，并且在与实体肿瘤相关的区域观察到杂合性的丧失。本文报道了21号染色体长臂的序列和基因目录。我们测序了33,546,361个碱基对（bp）的DNA，准确度很高，最大的片段为25,491,867 bp。只剩下3个小的克隆缺口和7个测序缺口，包含约100千碱基。因此，我们实现了21季度99.7%的覆盖率。我们还从短臂中测序了281,116 bp。已确定的结构特征包括可能与染色体异常有关的重复以及端粒和中心点周围区域的重复结构。染色体分析显示127个已知基因，98个预测基因和59个假基因。
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes.