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Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

作者信息

Williams C J, Rock M, Considine E, McCarron S, Gow P, Ladda R, McLain D, Michels V M, Murphy W, Prockop D J

机构信息

Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

出版信息

Hum Mol Genet. 1995 Feb;4(2):309-12. doi: 10.1093/hmg/4.2.309.

DOI:10.1093/hmg/4.2.309
PMID:7757086
Abstract
摘要

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1
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.II型胶原蛋白（COL2A1）中的三个新的点突变以及使用构象敏感凝胶电泳鉴定出第四例携带COL2A1基因精氨酸519突变为半胱氨酸碱基替换的家系。
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2
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).一个家族中因II型前胶原基因（COL2A1）发生精氨酸75突变为半胱氨酸而导致脊椎骨骺发育不良和早发性骨关节炎。
Hum Genet. 1993 Nov;92(5):499-505. doi: 10.1007/BF00216458.
3
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.在原α1（II）型胶原链中，精氨酸789反复被半胱氨酸替代会导致先天性脊椎骨骺发育不良。
J Rheumatol Suppl. 1995 Feb;43:37-8.
4
Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders.五个COL2A1基因精氨酸519-半胱氨酸突变家族：三个不同奠基者的证据
Hum Mutat. 1998;12(3):172-6. doi: 10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J.
5
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.在一个患有迟发性脊椎骨骺发育不良的家族中，II型胶原蛋白基因（COL2A1）发生单碱基突变，导致α1-247位的甘氨酸转变为丝氨酸。
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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).黏多糖贮积症（关节眼病）家族中Ⅱ型前胶原基因（COL2A1）的终止密码子
Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7. doi: 10.1073/pnas.88.15.6624.
7
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).II型胶原蛋白（COL2A1）发生突变，用天冬氨酸替代α1-67位的甘氨酸，导致白内障和视网膜脱离：Wagner综合征和Stickler综合征（关节眼病）分子异质性的证据。
Am J Hum Genet. 1993 Jul;53(1):55-61.
8
Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.II型前胶原基因单碱基突变（精氨酸519突变为半胱氨酸）相关骨关节炎的临床关联。一种新定义的发病机制。
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A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.IVS17的3' 剪接受体位点处的A-2至G转换是原始Stickler综合征家族中COL2A1基因突变的特征。
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Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.一名患有Kniest发育不良的患者中，由于II型前胶原基因（COL2A1）突变导致的可变剪接。
Hum Mol Genet. 1994 Oct;3(10):1891-3. doi: 10.1093/hmg/3.10.1891.

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J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9.
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The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.迟发性X连锁脊椎骨骺发育不良的分子基础。
Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8.
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Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.史迪格勒综合征玻璃体表型的变异可能由II型胶原Gly-X-Y三螺旋X位置的不同氨基酸取代引起。
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