Identification of single-nucleotide polymorphisms in the human LPIN1 gene
Identification of single-nucleotide polymorphisms in the human LPIN1 gene
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DOI：
10.1007/s100380200052
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发表时间：
2002-01-01
影响因子：
3.5
通讯作者：
Hegele, RA
中科院分区：
文献类型：
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作者：
Cao, HN;Hegele, RA
因为人LPIN 1的鼠类似物中的突变引起小鼠的脂肪营养不良，所以LPIN 1是人脂肪营养不良综合征的候选基因。为了确定可能的疾病突变和/或常见的单核苷酸多态性（SNP），我们开发了引物对来扩增LPIN 1的21个外显子。我们使用这些引物对在已知脂肪营养不良基因中没有突变的脂肪营养不良患者和正常对照受试者中的LPIN 1进行测序。我们没有发现罕见的LPIN 1编码序列的变异是专为脂肪营养不良患者。然而，我们发现了4个沉默的SNP，即外显子3的+17 C>T，外显子5的935 C>T，外显子6的1040 G>A和1079 G>C，和一个非同义SNP，即外显子15的2211 C>T（P616 S）。研究结果表明，LPIN 1突变在已知疾病基因没有突变的脂肪代谢障碍患者中并不常见。然而，扩增引物和SNP的鉴定提供了进一步研究LPIN 1与其他表型相关性的工具。
Because mutations in the murine analog of human LPIN1 cause lipodystrophy in mice, LPIN1 is a candidate gene for human lipodystrophy syndromes. To identify possible disease mutations and/or common single-nucleotide polymorphisms (SNPs), we developed primer pairs to amplify the 21 exons of LPIN1. We used these primer pairs to sequence LPIN1 in lipodystrophy patients who had no mutations in known lipodystrophy genes, and also in normal control subjects. We found no rare LPIN1 coding sequence variants that were exclusive to patients with lipodystrophy. However, we found four silent SNPs, namely, +17C>T in exon 3, 935C>T in exon 5, and 1040G>A and 1079G>C in exon 6, and one nonsynonymous SNP, namely, 2211C>T (P616S) in exon 15. The findings suggest that LPIN1 mutations are not commonly seen in patients with lipodystrophy who had no mutations in known disease genes. However, the identification of amplification primers and SNPs provides tools to further investigate LPIN1 for association with other phenotypes.