单纯性生长激素缺乏症（IGHD）病人生长激素基因5’端顺序研究

The Studies of Human Growth Hormone (hGH) Gene 5' Sequence in Isolated Growth Hormone Deficiency Patients

人生长激素（ｈＧＨ）基因大片段缺失是单纯性生长激素缺乏症原因之一，但大多数单纯性生长激素缺乏症病因不明。为探查这些病人的发病机理，用ＰＣＲ技术扩增克隆了三例病人ｈＧＨ基因５’端顺序，并检测了核苷酸序列。发现一例病人序列正常，但另二例病人均出现二种序列，一种是呈多态的正常顺序，另一种则有４个碱基的变异，发生在－１，＋３，＋１６，＋２５位核苷酸，揭示这些变异位点可能对转录翻译有影响。但这些变异顺序与生长激素缺乏症的确切关系还有待进一步的研究。

Human growth hormone (hGH) gene deletion is one of the cause of isolated growth hormone deficiency (IGHD). Most IGHD patients,however, are caused by the unknown mechanism. Here, hGH gene 5'sequences in 3 IGHD patients without hGH gene deletion were amplified with PCR technique and cloned into M13 bacteriophage. The sequences were then determined by dideoxy termination method. Two patients showed 2 sequences in which one is similar to normal polymorphic allele but the other showed 4 nuleotide mutations in position -1, +3 , +16 and +25. that may affect the expression of hGH gene.But the third patient showed completely normal sequence. The significance of the mutations in IGHD is under studying.