山东地区汉族人群中HLA-A、-B、-DRB1等位基因与原因不明卵巢早衰相关性研究  

Study on The correlation of unexplained premature ovarian failure and HLA-A,-B,-DRB1 alleles in Shandong Han population

作　　者：张鹏[1,2] 杜占惠 吕红娟[1,2] 

机构地区：[1]青岛大学医学院附属妇女儿童医院 [2]青岛市妇女儿童医疗保健中心,266012 [3]青岛市中心血站

出　　处：《中国优生与遗传杂志》2012年第8期21-22,共2页Chinese Journal of Birth Health & Heredity

基　　金：青岛市科技计划资助项目(08-2-1-3-nsh)

摘　　要：目的探讨HLA-A,-B和-DRB1位点等位基因多态性与原因不明卵巢早衰(premature ovarian failure,POF)的相关性。方法利用毛细管电泳测序技术(Capillary Electrophoresis),对36例汉族原因不明POF患者进行HLA-A,-B,-DRB1基因分型,并以865例山东健康汉族个体造血干细胞分型资料作为对照,分析HLA等位基因频率在两组中的分布差异。结果 POF组中HLA-A*33、HLA-B*07、HLA-B*52和HLA-B*55等位基因频率显著高于对照组(P<0.05)。HLA-A*33的等位基因频率POF组为19.44%,而正常对照组为10.17%,RR=2.18;HLA-B*07的等位基因频率POF组为12.50%,而正常对照组为5.32%,RR=2.65;HLA-B*52的等位基因频率POF组为11.11%,而正常对照组为4.10%,RR=3.06;HLA-B*55的等位基因频率POF组为5.56%,而正常对照组为1.50%,RR=4.23。结论山东汉族人群中HLA-A*33、HLA-B*07、HLA-B*52和HLA-B*55等位基因可能是POF的易感基因。Objective ： To investigate the correlation of the HLA - A, - B and - DRB1 allele polymorphism and unexplained premature ovarian failure （POF）. Methods ： 36 cases of Han unexplained POF patients carried HLA - A, - B, - of DRB1 gene sub - type with capillary electrophoresis sequencing technology, and 865 cases of Shandong healthy Chinese population hematopoietic stem cell genotyping data as a control, analysis the differences of HLA allele frequency distribution in the two groups. Results ： HLA - A ＊ 33, HLA - B ＊ 07, HLA - B ＊ 52 and HLA - B ＊ 55 specificities were found at higher frequencies in POF group than that in control group （19.44% versus 10.17%, RR = 2. 18, P〈0.05; 12.50% versus S. 32 %, RR = 2.65, P〈0.05; 11.11% versus 4. 10%, RR = 3.06, P〈0.05; 5.56% versus 1.50%, RR = 4. 23, P〈0.05; respectively）. Conclusion： HLA-A ＊ 33, HLA - B ＊ 07, HLA - B ＊ 52 and HLA - B ＊ 55 represent potential susceptibility determinants of POF in Shandong Han population.

关 键 词：卵巢早衰 人类白细胞抗原 等位基因频率 

分 类 号：R394.3[医药卫生—医学遗传学]