【摘要】 目的　研究中国汉族人群生长激素受体 (GHR)基因的单核苷酸多态性 (SNP) ,观察这些SNP在汉族人群中的分布。方法　应用 370 0型自动测序仪对 10 6名中国汉族非亲缘关系人的GHR基因部分外显子进行序列测定 ,确定其单核苷酸多态位点及基因型。结果　在外显子 6、10上共有 6个SNP位点 ,5个集中于第 10外显子 ,各等位基因频率与美国国立生物技术信息中心 (NCBI)报道均有差别 ,位于 16 30A >C (I5 2 6L)处的单核苷酸多态性杂合度最高 ,为 4 7 6 %。其中 14 83A>C (P4 77T)、1735A >C(P5 6 1T)、1319G >T (C4 2 2F)均有极性改变。美国国立生物技术信息中心报告的外显子 6的 5 36A >G未在本项研究人群中检测到。结论　生长激素受体基因SNP呈不均匀分布且具有种族差异性更多还原

【Abstract】 Objective To analyze the distribution of single nucleotide polymorphisms (SNP) of growth hormone receptor (GHR) gene in Chinese Han ethnic population Methods The sample of 106 unrelated healthy Chinese Hans was studied by sequencing exons of the GHR gene to detect SNP Results There were 6 SNP spots identified in exon 6 and exon 10 Five of them were found in exon 10, and one in exon 6 There were differences between the allele frequencies of the SNP we found and those in the NCBI database The highest heterozygosity of the SNP was found at 1630 A>C(I526L),which was 47 6% The SNP 1483A>C(P477T),1735 A>C(P561T)and 1319 G>T(C422F) had polarity change The SNP 536A>G in exon 6 from the NCBI database was not detected in this population The allele distribution of SNP was in good unity with the Hardey Weinberg equilibrium Conclusion It is suggested that the SNP of GHR are unevenly distributed and different in different ethnic populations更多还原