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雌激素受体基因多态性与发育性髋关节脱位关系的研究 被引量:7

The association of estrogen receptor gene polymorphism and developmental dislocation of the hip
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摘要 目的探讨发育性髋关节脱位(DDH)和雌激素(ER)基因多态性之间的相关性.方法取2003年2月~2004年8月我院治疗DDH患儿90例,设为DDH组,对照组50例.分别提取DDH组与正常儿童DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法研究ER基因限制性内切酶XbaⅠ和PvuⅡ酶切多态性与DDH发生的关系.结果DDH组和对照组雌激素受体PvuⅡ内切酶酶切多态性分布差异存在显著性意义(P<0.05);DDH组和对照组雌激素受体XbaⅠ内切酶酶切多态性分布差异无显著性意义(P>0.05).结论雌激素受体PvuⅡ内切酶酶切基因型多态性与DDH的发生之间存在相关性,雌激素受体XbaⅠ内切酶酶切基因型多态性与DDH的发生之间无显著相关性. Objective To investigate the relationship between developmental dislocation of the hip (DDH) and estrogen receptor gene polymorphism. Methods Xba Ⅰ and Pvu Ⅱ polyrnorphism of estrogen receptor gene was detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) in 48 patients with DDH and normal controls. The relationship between the polymorphism of estrogen receptor gene and the DDH was explored using x^2 analysis. A P value less than 0.05 was considered statistical significant difference. Results There was no association between Xba Ⅰ polymorphism of estrogen receptor gene and DDH. Pvu Ⅱ polymorphism of estrogen receptor gene, however, showed a close correlation with DDH. Conclusions The difference in estrogen genotypes among individuals might influence the development of DDH.
出处 《中华小儿外科杂志》 CSCD 北大核心 2005年第11期576-578,共3页 Chinese Journal of Pediatric Surgery
关键词 雌激素受体 基因多态性 发育性髋关节脱位 小儿 基因型 Hip disloction Receptors,estrogen Polyrnorphism,restriction fragment length
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  • 1彭明惺,刘利君,周锡华,周素华.先天性髋关节脱位病因探讨(附706例遗传流行病学调查)[J].华西医学,1996,11(1):91-91. 被引量:14
  • 2姜俊,麻宏伟,卢瑶,王岳平,王阳,李祁伟,吉士俊.先天性髋脱位与HOXB9基因或COL1A1基因传递不平衡研究[J].中华医学遗传学杂志,2003,20(3):193-195. 被引量:11
  • 3Kobayasbi S, Inoues S, Hosoi T, et al. Association of bone mineral density with polymorphism of the estrogen recepter gene. J Bone Miner Res, 1996, 11(3): 306-311.
  • 4Ponglikit mongkol M , Green S , Chambon P. Genomic organization of the human oestrogen recepter gene. E MBO J, 1988, 7:3385.
  • 5Ushiyama T, Ueyama H, Inoue K, et al. Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol,1998,25(1): 134-137.
  • 6Hill SM, Fuqua SA, Chamness GC, et al. Estrogen receptor expression in human breast cancer association with an estrogen receptor gene restriction fragment length polymorphism. Cancer-Res, 1989,49(1): 145-148.

二级参考文献12

  • 1Zakany J, Duboule D. Synpolydactyly in mice with a targeted deficency in the HoxD complex. Nature, 1996, 384: 69-71.
  • 2Davis AP, Capechi MR. A mutational analysis of the 5'HoxD genes : dissection of genetics interactions during limb development in mouse. Development, 1996,122: 1175-1185.
  • 3Pollock RA, Sreenath T, Ngo L, et al. Gain of function mutations for paralogous Hox genes: implications for the evolution of Hox gene function. Proc Natl Acad Sci U S A, 1995,92 : 4492-4496.
  • 4Mortlock DP, Innis JW. Mutation of HoxA13 in hand-foot-genital syndrome. Nat Genet, 1997, 15 : 179-180.
  • 5Goodman FR, Mundlos S, Muragaki Y, et al. Synpolydactyly phenotypes correlate with size of expansions in HoxD13 polyalanine tract. Proc Natl Acad Sci U S A, 1997, 94: 7458-7463.
  • 6Davis AP, Witte DP, Hsieh-Li HM, et al. Absence of radius and ulna in mice lacking Hoxa-11 and Hoxd-11. Nature, 1995, 375 :791-795.
  • 7Favier B, Rijli FM, Fromental-Ramain C, et al. Functional cooperation between the non-paralogous genes Hoxa-10 and Hoxd-11 in the developing forelimb and axial skeleton. Development,1996, 122: 449-460.
  • 8Krumlanf R. Hox genes in vertebrate development. Cell, 1994,78 : 191-201.
  • 9Giunta C, Superti-Furga A, Spranger S, et al. Ehlers-Danlos syndrome type Ⅵ :clinical features and molecular defects. J Bone Joint Surg Am, 1999, 81: 225-238.
  • 10Mark M, Rijli FM, Chambon P. Homeobox genes in embryogenesis and pathogenesis. Pediatr Res, 1997, 42: 421-429.

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