An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia.

An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia.
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对与躁郁症和精神分裂症相关的人类染色体 13q32-q33 上大约 15 Mb 区域的组装进行评估。

DOI:
10.1006/geno.2002.6765
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发表时间:
2002
期刊:
影响因子:
4.4
通讯作者:
E. Gershon
E. Gershon
中科院分区:
生物学3区
文献类型:
--
作者:
S. Christian;J. McDonough;Chun;S. Shaikh;V. Vlamakis;J. Badner;A. Chakravarti;E. Gershon

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The human 13q32-q33 region has been linked to both bipolar disorder and schizophrenia. Before completion of the draft sequences, we developed an approximately 15-Mb comprehensive map for the region extending from D13S1300 to ATA35H12. This map was assembled using publicly available mapping data and sequence-tagged site (STS)-based PCR confirmation. We then compared this map with the NCBI, Celera Genomics, and UCSC Golden Path data in February, June, and September 2001. All data sets showed gaps, misassignment of STSs, and errors in orientation and marker order. Surprisingly, the completed sequences of many bacterial artificial chromosomes (BACs) had been truncated. Of 21 gaps that were detected, 4 were present in both the NCBI and Celera databases. All gaps could be filled using 1-2 BAC clones. A total of 39 loci mapped to additional sites within the human genome, providing evidence of segmental duplications. Additionally, 61 unique cDNA clones were sequenced to increase available transcribed sequence, and 11,353 reference single-nucleotide polymorphisms (SNPs) with an average density of 1 SNP/3720 bases were identified. Overall, integration of the data from multiple sources is still needed for complete assembly of the 13q32-q33 region. (c)
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发表时间: 1997-04-15
影响因子: 15.9
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DOI: 10.1006/geno.1997.5087
发表时间: 1998
期刊: Genomics
影响因子: 4.4
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