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目的 :阐述胰岛素受体基因缺陷与胰岛素抵抗发生机制间的方法。方法 :运用 PCR-单链构型多态性技术 ,对 9个黑棘皮病家系 (计 9例患者 ,2 3例他们的一级亲属 )进行了该基因 17外显子筛查工作 ,对其中带型异常者进行了 DNA直接测序确认。结果 :发现了 3个既往未报道过的错义突变
Objective: To elucidate the mechanism of insulin receptor deficiency and insulin resistance. Methods: Ninety-nine pedigrees of Acanthosis nigricans (9 patients and 23 first-degree relatives) were screened for exon 17 using PCR-SSCP. Belt abnormalities were confirmed by direct DNA sequencing. Results: Three previously missed missense mutations were found