One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.
One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.
复制标题
DOI：
10.1016/j.ygeno.2014.01.001
复制
发表时间：
2014-04
期刊：
影响因子：
4.4
通讯作者：
Srivatsan ES
中科院分区：
文献类型：
--
作者：
Zainabadi K;Jain AV;Donovan FX;Elashoff D;Rao NP;Murty VV;Chandrasekharappa SC;Srivatsan ES
对HeLa细胞、致瘤性杂交细胞和两种成纤维细胞系11q13.1染色体5.5kb缺失的克隆和测序结果显示，AluSx和AluY之间存在同源重组，导致中间序列缺失。对494例正常淋巴细胞5.5kb序列进行远程PCR分析，28.3%的非洲裔美国人存在杂合缺失，而只有4.8%的高加索人存在杂合缺失（p<0.0001）。这一观察结果被HapMap样本的拷贝数变异（CNV）数据所证实，该数据显示这种缺失发生在27%的YRI（约鲁巴-西非）人群中，但在非非洲人群中没有。HapMap分析进一步确定了非洲血统人群中5个单核苷酸多态性与5.5kb缺失之间的强烈连锁不平衡。对缺失位点周围175kb序列的计算分析显示，缺失位点的柔韧性增强，热力学稳定性低，重复性高，茎环/发夹二级结构稳定，这些都是常见脆弱位点的特征。
Cloning and sequencing of 5.5kb deletion at chromosome 11q13.1 from the HeLa cells, tumorigenic hybrids and two fibroblast cell lines has revealed homologous recombination between AluSx and AluY resulting in the deletion of intervening sequences. Long-range PCR of the 5.5kb sequence in 494 normal lymphocyte samples showed heterozygous deletion in 28.3% of African- American ancestry samples but only in 4.8% of Caucasian samples (p<0.0001). This observation is strengthened by the copy number variation (CNV) data of the HapMap samples which showed that this deletion occurs in 27% of YRI (Yoruba – West African) population but none in non-African populations. The HapMap analysis further identified strong linkage disequilibrium between 5 single nucleotide polymorphisms and the 5.5kb deletion in the people of African ancestry. Computational analysis of 175kb sequence surrounding the deletion site revealed enhanced flexibility, low thermodynamic stability, high repetitiveness, and stable stem-loop/hairpin secondary structures that are hallmarks of common fragile sites.
登录
查看更多内容
影响因子：
64.5
作者：
Casper, AM;Nghiem, P;Glover, TW
通讯作者：
Glover, TW
影响因子：
3.7
作者：
Krummel, KA;Denison, SR;Smith, DI
通讯作者：
Smith, DI
影响因子：
8
作者：
Shamay, M;Agami, R;Shaul, Y
通讯作者：
Shaul, Y
DOI：
10.1073/pnas.95.14.8141
发表时间：
1998-07-07
影响因子：
11.1
作者：
Mishmar, D;Rahat, A;Kerem, B
通讯作者：
Kerem, B
影响因子：
3.5
作者：
Ried, K;Finnis, M;Richards, RI
通讯作者：
Richards, RI