温州地区5043例女性人群VDR FokI基因多态性分析  

Analysis of VDR FokI gene polymorphism in 5043 women in Wenzhou region

作　　者：严红琴 林煊 李焕铮 徐雪琴 YAN Hongqin;LIN Xuan;LI Huanzheng;XU Xueqin(Prenatal Diagnosis Center,Wenzhou Central Hospital,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州市中心医院产前诊断中心,浙江温州325000

出　　处：《中国优生与遗传杂志》2024年第10期2181-2184,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析温州地区女性人群维生素D受体(VDR)FokI基因多态性及其地区遗传分布特征,为临床科学指导女性人群补充维生素D提供遗传依据。方法选取2021年8月至2023年11月到温州市中心医院门诊就诊的温州地区女性人群5043例,采用实时荧光定量PCR技术测定VDR FokI基因位点多态性。统计出VDR FokI基因多态性的基因型频率与等位基因频率,将温州地区女性人群与文献报道的其他地区数据进行比较分析。结果5043例女性人群检测到VDR FokI基因多态性CC、CT及TT基因型频率分别为27.7%、48.9%和23.4%,等位基因C和T分别为52.2%和47.8%。与已报道普洱市、青岛市、上海市、武汉市及舟山市等地女性人群相比,差异无统计学意义;与澄迈县、青海省、长春市及深圳市相比,差异有统计学意义(P<0.05)。结论温州地区女性人群VDR FokI基因多态性分布具有地域特性。大约76.6%的女性人群具有维生素D代谢障碍风险(CT型和TT型)。VDRFokI基因突变检测可指导该地区女性人群合理补充维生素D。Objective To analyze the genetic polymorphisms and regional genetic distribution of vitamin D receptor(VDR)FokI among women in Wenzhou region,And to provide genetic basis for clinical scientific guidance on supplementing vitamin D for women.Methods From August 2021 to November 2023,5043 women in Wenzhou region who consultation the outpatient department of Wenzhou Central Hospital were selected.The Genotype of VDR FokI was detected by PCR fluorescence quantitative detection method.The VDR FokI gene polymorphisms among women in Wenzhou were analyzed statistically,then the results were compared with data of women in other regions had been reported in the literature.Results The frequencies of VDR FokI polymorphisms CC,CT and TT among women in Wenzhou region were 27.7%,48.9%and 23.4%,and the frequencies of alleles C and T were 52.2%and 47.8%.There was no significant difference compared with the reported women in Pu’er City,Qingdao City,Shanghai City,Wuhan City and Zhoushan City,however,the difference was significant compared to Chengmai County,Qinghai Province,Changchun City and Shenzhen City(P<0.05).Conclusion The distribution of VDR FokI gene polymorphism in women in Wenzhou region is regionally specific.About 76.6%of women in Wenzhou region have the risk of vitamin D metabolism disorder(CT type and TT type).The detection of VDR FokI gene mutation can guide women in this area to take supplementary vitamin D reasonably.

关 键 词：温州地区 维生素D受体 基因多态性 

分 类 号：R173[医药卫生—妇幼卫生保健]