期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

假性软骨发育不全、多发性骨骺发育不良的分子遗传学研究进展 被引量：7

Progress of molecular genetic research on pseudoachondroplasia and multiple epiphyseal dysplasia
下载PDF
导出
摘要 假性软骨发育不全(pseudoachondroplasia,PSACH)和多发性骨骺发育不良(multiple epiphyseal dysplasia,MED)均为骨发育不良性疾病的家族成员之一,它们的遗传方式和临床表型都具有异质性的特点,二者均由软骨低聚物基质蛋白(cartilage oligomeric matrix protein,COMP)基因突变所致。COMP是血小板凝血酶敏感蛋白(thrombospondin,TSP)家族的成员之一,它在骨骼的发育过程中起着重要的作用,文章着重就COMP的结构与功能、COMP基因的突变类型、检测方法及其与两病的相关性的最新进展作一综述。 Pseudoachondroplasia （PSACH） and multiple epiphyseal dysplasia （MED） belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. Both disorders are caused by mutations in the cartilage oligomeric matrix protein （COMP）. COMP is a member of the thrombospondin （TSP） family, which plays an important role in skeletal development. In this paper, we mainly review the latest advances on the structure, function of COME We also discuss the types of COMP mutations, the detection methods and the relationship between the COMP gene and these two diseases.
作者 王晶晶 郭奕斌
机构地区 中山大学中山医学院医学遗传室
出处 《遗传》 CAS CSCD 北大核心 2008年第5期537-542,共6页 Hereditas（Beijing)
基金 CMB部分基金项目(2003)资助~~
关键词 假性软骨发育不全 多发性骨骺发育不良 软骨低聚物基质蛋白 基因突变 基因诊断 pseudoachondroplasia multiple epiphyseal dysplasia cartilage oligomeric matrix protein （COMP） gene muta- tion gene diagnosis
分类号 R681 [医药卫生—骨科学]
  • 相关文献

参考文献39

  • 1Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cekleniak JA, Knowlton RG, Cohn DH. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet, 1995, 10(3): 330-336.
  • 2Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet, 1995, 10(3): 325-329.
  • 3Oehlmann R, Summerville GP, Yeh G, Weaver EJ, Jimenez SA, Knowlton RG. Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am J Hum Genet, 1994, 54(1): 3-10.
  • 4Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations. Hum Murat, 2002, 19(5): 465-478.
  • 5Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etioiogic developments. Am J Med Genet, 2001, 106(4): 244-250.
  • 6Ballhausen D, Bonaf6 L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet, 2003, 40(1): 65-71.
  • 7Hedbom E, Antonsson P, Hjerpe A, Aeschlimann D, Paulsson M, Rosa-Pimentel E, Sommarin Y, Wendel M, Oldberg A, Heinegard D. Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage. J Biol Chem, 1992, 267(9): 6132-6136.
  • 8Oldberg A, Antonsson E Lindblom K, Heinegard D. COMP (cartilage oligomeric matrix protein) is structurally related to thrombospondins. J Biol Chem, 1992, 267(31): 22346-22350.
  • 9Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease slaectrum. Am J Hum Genet, 1998, 62(2): 311-319.
  • 10Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. Am J Med Genet, 1998, 80(5): 510-513.

二级参考文献7

  • 1[1]Oehlmann R,Summerville GP,Yeh G,et al.Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19[J].Am J Hum Genet,1994,54(1):3-10.
  • 2[2]Briggs MD,Hoffman SM,King LM,et al.Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene[J].Nat Genet,1995,10(3):330-336.
  • 3[3]Murigagi Y,Mariman ECM,van Beersum SEC,et al.A mutation in the gene encoding the α 2 chain of the fibril-associated collagen Ⅸ,COL9A2,causes multiple epiphyseal dysplasia (EDM2)[J].Nat Genet,1996,12(1):103-105.
  • 4[4]Paassilta P,Lohiniva J,Annunen S,et al.COL9A3 :a third locus for multiple epiphyseal dysplasia[J].Am J Hum Genet,1999,64(4):1036-1044.
  • 5[5]Superti-Furga A,Neumann L,Riebel T,et al.Recessively inherited multiple epiphyseal dysplasia with normal stature,club foot,and double layered patella caused by a DTDST mutation[J].J Med Genet,1999,36(8):621-624.
  • 6[6]Sheffield EG.Double layered patella in multiple epiphyseal dyspla-sia ;a valuable clue in the diagnosis[J].J Pediatr Orthop,1998,18(1):123-128.
  • 7[7]Briggs MD,Mortier GR,Cole WG,et al.Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum[J].Am J Hum Genet,1998,62(2):311-319.

共引文献2

同被引文献51

  • 1艾阳,唐佳,方群,吴晓昀,郭奕斌.一例成骨不全Ⅱ型高危胎儿的产前基因诊断[J].中华临床医师杂志（电子版）,2011,5(22):6662-6666. 被引量：5
  • 2陈志红,翟琼香.假性软骨发育不良1例[J].广东医学,2005,26(11):1490-1490. 被引量：1
  • 3许蔓春,荆丽娟,湛月娥,马恒,谢祥.假性软骨发育不全1例[J].实用儿科临床杂志,2006,21(14):924-924. 被引量：2
  • 4张泽坤,李玉清,赵静品,吴文娟,高静,于宝海,王溱.脊椎干骺端发育异常的X线表现[J].中华放射学杂志,2007,41(1):63-65. 被引量：1
  • 5Briggs MD, Rasmussen LM,Weher JL, et al. Genetic linkage of pseudoachondroplasia to markers in the pericentrometric region of chromosome 19[J]. Genomics, 1993,18(3):656-660.
  • 6Tachdjian MO. Tachdjian Pediatric Orthopedics[M]. 2^nd ed. Philadelphia: W. B. Saund Ers Company, 1990:749-752.
  • 7王子轩,刘吉华.骨关节解剖与疾病影像诊断[M].北京:人民卫生出版社,1996:279-280.
  • 8Tachdjian MO. Tachdjian Pediatric Orthopedics[M]. 2nded. Philadeiphia:W B Saund Ers Company,1990:749- 752.
  • 9Briggs MD,Chapman KL. Pscudoachondroplasia and multiple epiphyseal dysplusia:Mutation reviel,molecular interaction,and genotype to pheno-type correlatkms [J]. Hum Mutat,2002, 19(5) :465-478.
  • 10LALL S P, LEWIS-MCCREA L M. Role of nutrients in skeletal metabolism and pathology in fish-anoverview[ J]. Aquaculture ,2007,267(1-4) :3-19.

引证文献7

二级引证文献13

遗传
2008年 第5期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部