中文摘要：

目的：探讨细胞色素 P450c17α酶基因（CYP17）多态性与新疆和田地区民丰县成人个体高矮是否具有相关性。方法：收集长期居住同一地区22例高身材组（男性14例,女性8例）和81例矮身材组（男性27例,女性54例）成人的血液标本并提取 DNA,设计引物,通过 PCR 扩增包括基因多态位点的片段,用限制性内切酶 MspA1I 进行酶切,产物在2%琼脂糖凝胶上电泳,确定 CYP17基因的3种基因型,即 A1/A1、A1/A2、A2/A2,并经测序证实。结果：在男女高矮个子组间A1/A2、A2/A2、A1/A1基因型频率的分布无差异；男性高矮个子组间 A1/A2、A2/A2、A1/A1基因型频率的分布呈显著性差异；A1/A1和 A2/A2基因型在高矮个子组间非条件 Logistic 回归分析,OR 值分别为1.128（95%CI 0.925~1.376）和0.778（95%CI 0.442~1.161）。女性高矮个子组间无差异。A1/A2、A2/A2、A1/A1基因型与所有样本生化指标间无差异,但身高间存在差异；维吾尔族与汉族人群基因型之间有差异,而与藏族人群间无差异。结论：CYP17基因 MspA1I 酶切位点基因多态性与维吾尔族男性成人身材高矮有相关性。CYP17基因 MspA1I 酶切位点多态性可能是影响维吾尔族成人个体身高差异的基因位点之一。

英文摘要：

Obj ective ：To validate correlation of genetic polymorphism of CYP1 7 with height in the residents living in Mingfeng town,Hetian district of Xinjiang Uyghur autonomous region.Methods ：The blood DNA samples were obtained from 22 adults （14 males and 8 females）as Tall Group and 81 adults （27 males and 54 females）as Short Group,respectively.Then, the three genotypes of CYP1 7 （A1/A1 ,A1/A2 and A2/A2 ）were analyzed by using PCR and confirmed by sequencing. Results ：No difference was found in genetic polymorphisms between two genders.However,the frequency distributions of three genotypes in two different male groups showed significant difference.And,the Logistic regression analysis showed that the OR values of A1/A1 and A2/A2 in Tall and Short groups of males were 1 .128 （95 % CI 0.925-1 .376）and 0.778（95 % CI 0.442-1 .1 6 1）,respectively.Conversely,no significant differences were found in female individuals.The three genotypes of CYP1 7 did not correlate to parameters detected in present study excluding height.Moreover,the polymorphisms of CYP1 7 were obviously distinguished from the Han people,but similar to Tibetan people.Conclusion：The loci gene polymorphisms of CYP1 7 revealed by MspA1I enzyme digestion are correlated to height in Uygur males.The polymorphisms of CYP1 7 should be a potential candidate to influence the height of Uyghur adults.