臺灣博碩士論文加值系統

生長激素 (growth hormone, GH) 是促進人體生長代謝最重要的激素，尤其對青春期發育前的兒童更為重要。無論是在環境或遺傳因子方面，皆有可能造成生長遲緩，生長激素是治療不同原因造成的生長激素缺乏的兒童最理想的藥物。藉由採用生長激素治療後，身高增加的速度上有顯著的改善，尤其第一年效果最明顯。但是治療效果並不一致，因人而異。單核酸多型性 ( single nucleotide polymorphisms, SNPs ) 是人類基因體中常見的基因差異，以SNP為遺傳標記可以作為尋找與疾病相關聯基因的最佳工具，因為其具備有快速，便宜及精確的特性。本研究在此架構概念下，已收集117位患有生長激素缺乏症的兒童，我們將篩選出適合而且與生長調節有關的遺傳標記。為了探討單核酸多型性是否會影響生長激素治療的療效，計劃將利用限制片段長度多形性 (RFLP) 方法，研究探討跟生長激素引起之訊息傳導有關的基因。由於仍有許多其它外在的干擾因子有可能會影響到治療療效的差異，例如:出生時的體重、父母的身高、下視丘狀況等。因此本研究將上述干擾因子一併探討，以釐清探討基因多形性與生長激素治療的療效之間的相關聯性。

Growth hormone (GH) is the major regulator of postnatal growth and metabolicfunctions especially during childhood. Both
environmental and genetic factors arethought to be involved in the disorders of growth. After treated with recombinant GH,GH-deficient ( GHD ) children have remarkable improvement in growth rate during the first year of therapy, however, the increase of growth rate differs. Recently,We had invested 117 GH-deficient children (82 males and 35 females) aged between 0.5 and 17 (mean ± SD: 8.93 ± 3.52) In this study, we identify useful genetic markers involved in regulation of growth. To elucidate if genetic poly-morphisms may influence the efficacy of growth hormone therapy,we will study the genes involved in the signal transduction induced by GH stimulation using restrictionfragment length polymorphism (RFLP). The relevance will be investigated in the difference of growth response after one-year-GH treatment. The other variants which
may influence the growth rate after GH treatment such as body weight, height of parents and hypothalamic condition are also considered.

致謝----------------------------------------------1
中文摘要------------------------------------------2
英文摘要------------------------------------------3
第一章 前言
第一節 導論-------------------------------------- 4
第二節 生長激素的生理功能------------------------ 7
第三節 生長激素的調節---------------------------- 8
第四節 生長激素缺乏的臨床症狀-------------------- 9
第五節 生長激素的注射治療------------------------10
第六節 實驗的目的--------------------------------11
第二章 實驗材料
第一節 病患檢體的收集----------------------------12
第二節 實驗所需的材料----------------------------14
第三章 實驗方法----------------------------------19
第四章 實驗結果----------------------------------25
第五章 討論--------------------------------------31
表一 --------------------------------------------23
表二 --------------------------------------------24
表三 --------------------------------------------27
表四 --------------------------------------------28
表五 --------------------------------------------29
表六 --------------------------------------------30
圖一 --------------------------------------------35
圖二 ---------------------=----------------------36
圖三 --------------------------------------------37
圖四 --------------------------------------------38
圖五 --------------------------------------------39
圖六 --------------------------------------------40
參考文獻 ---------------------------=------------41

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