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已有研究发现,某些非胰岛素依赖型糖尿病(NIDDM)患者存在胰岛素基因突变,这些突变可能包括胰岛素启动子区域的变异。为验证这一假设,本文应用多聚酶链反应(PCR)技术,扩增基因组 DNA,配合使用高灵敏的 SSCP 方法,对胰岛素启动子进行了研究。用 PCR 扩增基因组 DNA,扩增片段经 SSCP电泳。在筛查的40例美国黑人 NIDDM 患者中,两例胰岛素启动子发生了变异。DNA 序列分析表明,这两例患者均为杂合子,除具有一个正常等位基因外,还有一个含有8-bp 重复序列(TGGTC-TAA)的较大等位基因。这一重复序列位于胰岛素启动子的-322～-315处。为了解这一突变在人
It has been found in some patients with non-insulin-dependent diabetes mellitus (NIDDM) insulin gene mutations exist, these mutations may include the variation of the insulin promoter region. In order to verify this hypothesis, we used polymerase chain reaction (PCR) technique to amplify genomic DNA and study the insulin promoter in combination with the highly sensitive SSCP method. Genomic DNA was amplified by PCR and amplified by SSCP. Of the 40 African-American NIDDM patients who were screened, two had a mutation in the insulin promoter. DNA sequence analysis showed that both patients were heterozygous and had a larger allele with an 8-bp repeat (TGGTC-TAA) in addition to having one normal allele. This repeat is located at -322 to -315 of the insulin promoter. To understand this mutation in people