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共同性外斜视一家系中ARIX基因的多态性 被引量：3

The ARIX gene polymorphisms in patients with concomitant extropia in a family
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摘要 目的研究共同性外斜视家系中患者ARIX基因多态性及其意义。方法对收集到的共同性外斜视一家系中所有成员提取外周血DNA,进行PCR扩增,DNA测序,测序结果与GenBank中人ARIX基因序列进行同源性比较。结果家系中所有患者在ARIX基因外显子2处发生G116A改变,为同义突变,2例正常人也出现此改变。结论 ARIX基因可能不是本研究中所收集的共同性外斜视家系的致病基因。 Objective To investigate the ARIX gene polymorphisms in patients with concomitant extropia in a family and its association with clinical characteristics of these patients. Methods The genomic DNA of all family members was extracted from peripheral blood leukocytes and amplified with PCR. The PCR products were purified for DNA sequencing. DNA sequences were aligned with the human ARIX gene sequences registered in GenBank. Results A 116G 〉 A synonymous mutation of exon 2 in six patients in the pedigree. Two of the six normal individuals have the mutation also. Conclu- sion The ARIX gene maybe not virulence gene in this pedigree.
作者 张光虹 秦蕊 张水华
机构地区 哈尔滨医科大学附属第二医院眼科
出处 《临床眼科杂志》 2012年第6期522-524,共3页 Journal of Clinical Ophthalmology
基金 黑龙江省留学归国基金(LC2009C24)
关键词 共同性外斜视 家系 ARIX基因 基因多态性 Concomitant extropia Pedigree ARIX gene Gene polymorphism
分类号 R777.41 [医药卫生—眼科]
  • 相关文献

参考文献12

  • 1Matsuo T, Yamane T, Ohtsuki H. Herehity versus abnormalities in pregnancy and delivery as risk factors for different types of comitant strabismus. J Pediatr Ophthalmol Strabismus ,2001,38:78-82.
  • 2Fujiwara H, Matsuo T, Sato M, et al. Genome-wide search for stra- bismus susceptibility loci. Acta Med Okayama,2003,57:109-1 16.
  • 3Parikh V, Shugart YY, Doheny KF, et al. A strabismus susceptibil- ity locus on chromosome 7p. Proc Nail Aci USA ,2003,100:12283- 12288.
  • 4Shaaban S,Matsuo T,Strauch K,et al. Investigation of parent-of-or- igin effent in comitant strabismus using MOD score analysis. Mol Vis .2009.15 : 1351-1358.
  • 5Jiang Y, Matsuo T, Fujiwara H ,et al. ARIX and PHOX2B Polymor- phisms in Patients with Congenital Superior Oblique Muscle Palsy. Acta Med Okayama,2005 ,59 :55-62.
  • 6Imai S, Matsuo T, Itoshima E et al. Clinical Features, ARIX and PHOX2B Nucleotide Changes in Three Families with Congenital Superior Oblique Muscle Palsy. Acta Med Okayama,2008,62:45- 53.
  • 7Nakano M, Yamada K ,Fain J, et al. Homozygous mutations in AR- IX(PHOX2A) result in congenitali fibrosis of the extraocular muscles type 2. Nat Genet ,2001,29:315-320.
  • 8Ziakas NG,Woodruff G,Smith LK,et al. A study of heredity as a risk factor in strabismus. Eye ,2002,16:519-521.
  • 9Sbaaban S, Matsuo T, Fujiwara H,et al. Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus. Invest Ophthalmol Vis Sci ,2009,50:654-661.
  • 10刘桂香,赵会元,孔庆兰,胡聪.共同性外斜视ARIX基因多态性研究[J].眼科研究,2007,25(1):57-60. 被引量：8

二级参考文献13

  • 1Matsuo T,Yamane T,Ohtsuki H.Heredity versus abnormalities in pregnancy and delivery as risk factors for different types of comitant strabismus[J].J Pediatr Ophthalmol Strab,2001,38 (2):78-82
  • 2Ziakas NG,Woodruff G,Smith LK,et al.A study of heredity as a risk factor in strabismus[J].Eye,2002,16 (5):519-521
  • 3Matsuo T,Hayashi M,Fujiwara H,et al.Concordance of strabismus phenotypes in monozygotic versus multizygotic twins and other multiple births[J].Jpn J O phthalmol,2002,46 (1):59-64
  • 4Parikh V,Shugart YY,Doheny KF,et al.A strabismus susceptibility locus on chromosome 7p[J].Proc Natl Acad Sci USA,2003,100(21):12283-12288
  • 5Fujiwara H,Matsuo T,Sato M,et al.Genome-wide search for strabismus susceptibility loci[J].Acta Med Okayama,2003,57(3):109 -116
  • 6Nakano M,Yamada K,Fain J,et al.Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2[J].Nat Genet,2001,29(3):315-320
  • 7Jiang Y,Matsuo T,Fujiwara H,et al.ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy[J].Br J Ophthalmol,2004,88 (2):263-267
  • 8Lorenz B.Genetics of isolated and syndromic strabismus:facts and perspectives[J].Strabismus,2002,10 (2):147-156
  • 9Saxena A,Moshynska O,Sankaran K.et al.Association of a novel single nucleotide polymorphism,G (-248) A,in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance[J].Cancer Leff,2002,187:199-205
  • 10van Wijk R,van Soliuge WW,Nerlov C,et al.Disruption of a novel regulatory element in the erythroid-specifie promoter of the human PKLR gene causes severe pyruvate kinase deficiency[J].Blood,2003,101:1596-1602

共引文献7

同被引文献22

  • 1刘桂香,赵会元,孔庆兰,胡聪.共同性外斜视ARIX基因多态性研究[J].眼科研究,2007,25(1):57-60. 被引量：8
  • 2郝雨时.斜视[M].天津:天津科学技术出版社,1982:163-178.
  • 3赵堪兴,杨培增.眼科学[M].8版.北京:人民卫生出版社,2015:264-275.
  • 4XC Ye, V Pegado, MS Patel, et al. Strabismus genetics across a spectrum of eye misalignment disorders[J]. Clinical Genetics, 2014, 86 (2): 103-111.
  • 5B Lorenz. Genetics of isolated and syndromic strabismus : facts and perspectives[J]. Strabismus, 2002, 10 ( 2 ) : 147-156.
  • 6V Parikh, YY Shugart, KF Doheny, et al. A strabismus susceptibility lOCUS on chromosome 7p[J]. Proceedings of the National Academy of Sciences, 2003, 100 (21) : 12283-12288.
  • 7S Shaaban, T Matsuo, K Strauch, et al. Investigation of parent- of-origin effect in comitant strabismus using MOD score analysis[l]. Molecular Vision, 2009, 15 ( 15 ) : 1351-1358.
  • 8S Shaabata, TH Matsuo, E itoshima, et al. Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus[l]. Investigative Ophthalmology & Visual Science, 2009, 50 ( 2 ) : 654-661.
  • 9EC Engle. Homozygous mutations in ARIX ( PHOX2A ) result in congenital fibrosis of the extraocular muscles type [J]. Nature Genetics, 2001, 29 (3): 315-320.
  • 10Jiang, T Matsuo, H Fujiwara, et al. AIIX and PHOX2B Polymorphisms in Patients with Congenital Superior Oblique Muscle Palsy[J]. Acta Medica Okayama, 2005, 59 ( 2 ) : 55-62.

引证文献3

二级引证文献1

临床眼科杂志
2012年 第6期

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