中國漢族人群GH1基因啟動子區單體型及與身高的關系

葛蕓英，陳 松，張廣峰

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中國漢族人群GH1基因啟動子區單體型及與身高的關系

葛蕓英，陳 松*，張廣峰

（公安部物證鑒定中心，北京 100038）

ABATRACT： Objective The aim of this study is to investigate the single nucleotide polymorphisms （SNPs） located at the GH1 gene proximal to promoter region in Chinese Han population， and to explore its haplotype association with adult height. Methods SNP typing was performed by direct DNA sequencing in a control Chinese population of 109 unrelated male adults. By using both allele-specifi c PCR and the Haploview software， the haplotypes on the basis of the SNPs were obtained. Haplo.stats software was employed to analyze the association between haplotype and adult height. Results 69 samples were successfully genotyped with 34 samples bearing at least two polymorphic sites. 13 SNPs were found in the GH1 gene proximal to promoter region in Chinese Han population， and three of them located at sites of ?261， ?250 and +20， were discovered for the fi rst time. The same results of haplotypes were obtained by using both allele-specifi c PCR and Haploview software. Three tag SNPs were found at ?278， ?57 and ?6 sites. Seven haplotypes were detected （GGA、GGG、GTA、TGA、TGG、TTA、TTG）， and statistical results indicated that people with TTA， GGG and TTG haplotypes were signifi cantly shorter in height than those with GTA， the most common type in Chinese Han population （P＜0.05）. Conclusions Computation of haplotypes on SNPs based on the population data is relatively correct and can be applied to the haplotype analysis independently. The GH1 gene proximal to promoter region in Chinese Han population is highly polymorphic and differs among races， and its haplotypes may contribute to the human height. Taken together， this paper provides essential data on the associations between human height and GH1 proximal haplotypes.

摘要：目的 研究中國漢族人群GH1基因啟動子區域的單核苷酸多態性及其在中國漢族人群中的分布規律，建立其單體型分析方法并探索與成年人身高間的關系，為今后個體身高特征推測研究奠定基礎。方法 采用直接測序法進行SNP檢測，獲得其分型數據；采用等位位點特異性PCR方法和基于人群的單體型推斷方法分別進行單體型分析，并采用Haplo.stats軟件構建單體型與身高的廣義線性模型。結果 GH1基因啟動子區域含有多個SNP位點，在前人研究的基礎上發現了?261、?250、+20三個新SNP位點；找到? 278、?57、?6三個標簽SNP位點，以最常見的單體型GTA為參照，TTA、GGG、TTG攜帶者的身高更矮（P＜0.05），差異具有統計學意義。結論 基于人群的單體型推斷方法是一種比較準確可行的方法，可以在后續的研究中單獨使用，不需要再進行復雜費時的等位位點特異性PCR操作；GH1基因啟動子區域在中國漢族人群中表現出高度多態性，并存在一定的人種差異；GH1基因啟動子區域的序列及單體型與身高存在一定的關系。

關鍵詞：GH1啟動子；單核苷酸多態性；等位位點特異性PCR；單體型；計算機輔助單體型計算；身高

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