BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.
BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.
复制标题
BAC 和 PAC 重叠群覆盖 21 号染色体上 D21S55 和 MX1 之间 3.5 Mb 的唐氏综合症先天性心脏病区域。
DOI：
10.1006/geno.1997.4657
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发表时间：
1997
期刊：
影响因子：
4.4
通讯作者：
Korenberg,JR
中科院分区：
文献类型：
--
作者：
Hubert,RS;Mitchell,S;Chen,XN;Ekmekji,K;Gadomski,C;Sun,Z;Noya,D;Kim,UJ;Chen,C;Shizuya,H;Simon,M;deJong,PJ;Korenberg,JR
21号染色体是研究人类染色体非整倍体的模型，其物理图谱和转录图谱的构建是理解非整倍体依赖表型的分子基础的必要步骤。为了确定唐氏综合征先天性心脏病(DS-CHD)的致病基因(S)，我们构建了D21S55到MX1区域的物理图谱。用跨越区间的几个YAC筛选细菌人工染色体(BAC)文库，并用放射性标记的STS PCR产物和整个BAC填充缺口的举措筛选P1来源的人工染色体(PAC)文库。FISH证实了所有BAC和PAC克隆的位置为21q22.2-q22.3。利用克隆对克隆的Southerns和通过对BAC和PAC末端的直接测序产生的24个新的STSS以及35个先前存在的STSS建立了重叠。大约3.5Mb的4-到5-Mb D21S55到MX1区间被85个BAC和24个PAC覆盖，相当于重叠群内覆盖的四倍。这些BAC和PAC重叠群是分离DS-CHD基因的有价值的试剂。
Chromosome 21 is a model for the study of human chromosomal aneuploidy, and the construction of its physical and transcriptional maps is a necessary step in understanding the molecular basis of aneuploidy-dependent phenotypes. To identify the gene(s) responsible for Down syndrome congenital heart disease (DS-CHD), we constructed a physical map of the D21S55 to MX1 region. A bacterial artificial chromosome (BAC) library was screened using several YACs spanning the interval, and a P1-derived artificial chromosome (PAC) library was screened using radiolabeled STS PCR products and whole BACs in gap-filling initiatives. FISH confirmed the location of all BAC and PAC clones to 21q22.2–q22.3. Overlaps were established using clone-to-clone Southerns and 24 new STSs, generated from the direct sequencing of BAC and PAC ends, along with 35 preexisting STSs. Approximately 3.5 Mb of the 4- to 5-Mb D21S55 to MX1 interval is covered in 85 BACs and 24 PACs, representing fourfold coverage within the contigs. These BAC and PAC contigs are valuable reagents for isolating the genes for DS-CHD.