Identification of polymorphisms in the human SHP1 gene
Identification of polymorphisms in the human SHP1 gene
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DOI：
10.1007/s100380200062
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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
由于人类SHP 1突变是肥胖和糖尿病的基础，因此SHP 1是人类脂肪代谢障碍综合征的候选基因。为了鉴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SHP 1的启动子和编码区。我们使用这些对来测序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SHP 1。我们没有发现罕见的SHP 1编码序列的变异是专为脂肪营养不良患者。然而，我们发现了四种多态性，即启动子中的SNP [-394]C>T，启动子中的微缺失多态性[-195]delCTGA，外显子1中的错义SNP 541 G>C（改变了氨基酸序列G171 A）和外显子2中的SNP 903 C>T。研究结果表明，SHP 1突变在已知疾病基因没有突变的脂肪营养不良患者中并不常见。然而，扩增引物和多态性的鉴定为进一步研究SHP 1与其他表型的关联提供了工具。
Because mutations in human SHP1 underlie obesity and diabetes, SHP1 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 promoter and coding region of SHP1. We used these pairs to sequence SHP1 in lipodystrophy patients who had no mutations in known lipodystrophy genes, and also in normal control subjects. We found no rare SHP1 coding sequence variants that were exclusive to patients with lipodystrophy. However, we found four polymorphisms, namely, an SNP [-394]C>T in the promoter, a micro-deletion polymorphism [-195]delCTGA in the promoter, a missense SNP 541G>C in exon 1 (which changed the amino acid sequence G171A), and an SNP 903C>T in exon 2. The findings suggest that SHP1 mutations are not commonly seen in patients with lipodystrophy who had no mutations in known disease genes. However, the identification of amplification primers and polymorphisms provides tools to further investigate SHP1 for association with other phenotypes.