摘要
目的 :为进一步阐明原发性高血压病人伴胰岛素抵抗的发病机制 ,揭示胰岛素受体基因缺陷在原发性高血压病中的作用。方法 :对原发性高血压伴胰岛素抵抗患者胰岛素受体基因酪氨酸激酶域外显子 17、18基因突变进行检测 ,并对突变的外显子进行核苷酸序列分析。结果 :1原发性高血压病人存在着胰岛素抵抗。 2原发性高血压病人伴有胰岛素抵抗者 33例中 9例发生基因突变占 2 7.2 7% ,突变部位发生在外显子 17。银染 PCR- SSCP检测突变的 9例中呈现两种不同的带型 ,带型 7例 ,带型 2例。外显子 18未检出突变。正常对照 2 8例健康人中外显子 17、18均未检测出突变。 3测序结果带型 为外显子 1710 5 8CAC→ CAT杂合子无意突变 ,带型 为外显子1710 5 8CAC→ CAT纯合子无意突变。结论 :外显子 17的无意突变带型可作为原发性高血压患者发生胰岛素抵抗的基因标志之一。
Objective:Research on insulin receptor(INSR)gene defection in primary hypertension with insulin resistance.Me thods: Using PCR SSCP,we detected the mutation of INSR tyrosine kinase domain exon 17 and exon 18 in 33 primary hypertension patients and 28 normal persons.Exon with mutation was detected by direct sequence analysis.Results:9 INSR exon 17 mutations were detected in 33 primary hypertension with insulin resistance.Based on direct sequence analysis of exon 17,nonsense mutations were found at position 1058 (CAC→CAT).2 were homozygous muation and 7 were heterozygous mutation.Conclusion:The frequency of sense mutation of INSR tyrosine kinase domain in hypertension with insulin resistance is relatively lower,but nonsense mutation may be regarded as one type of gene markers for hypertension patients who are of insulin resistance.
出处
《中国慢性病预防与控制》
CAS
2000年第3期108-110,共3页
Chinese Journal of Prevention and Control of Chronic Diseases
