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编码人原α1（II）胶原链的基因组克隆的分离及部分特性分析，以及该基因3'端限制性片段长度多态性的证明。

Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.

作者信息

Nunez A M, Francomano C, Young M F, Martin G R, Yamada Y

出版信息

Biochemistry. 1985 Nov 5;24(23):6343-8. doi: 10.1021/bi00344a004.

DOI:10.1021/bi00344a004
PMID:3002437
Abstract

We have isolated two clones containing 19 kilobases (kb) of the human gene coding for a pro-alpha 1 (II) collagen chain from human lambda genomic DNA libraries. A 3' clone, HC2A, was selected by cross-hybridization with a cDNA clone containing sequences coding for the carboxy propeptide of chick type II procollagen. A second clone, HC2B, was obtained by screening the library with the 5' part of HC2A. The sequence analysis of exon 3 corresponding to the C propeptide reveals the presence of stretches of conserved nucleotides between the human and the chick type II procollagen genes. On Northern blots, the human collagen clone hybridizes strongly to a 5.5-kb RNA for the rat type II procollagen chain. Finally, studies of genomic DNAs from normal individuals reveal the presence of a HindIII and a BamHI polymorphic site at the 3' end of the gene.

摘要

我们从人λ基因组DNA文库中分离出了两个克隆，它们包含编码前α1（II）胶原链的19千碱基（kb）的人类基因。通过与一个包含编码鸡II型前胶原羧基前肽序列的cDNA克隆进行交叉杂交，选择了一个3'克隆HC2A。通过用HC2A的5'部分筛选文库，获得了第二个克隆HC2B。对应于C前肽的外显子3的序列分析揭示了人类和鸡II型前胶原基因之间存在保守核苷酸序列。在Northern印迹上，人类胶原克隆与大鼠II型前胶原链的5.5-kb RNA强烈杂交。最后，对正常个体的基因组DNA研究揭示了该基因3'端存在一个HindIII和一个BamHI多态性位点。

相似文献

1
Isolation and partial characterization of genomic clones coding for a human pro-alpha 1 (II) collagen chain and demonstration of restriction fragment length polymorphism at the 3' end of the gene.编码人原α1（II）胶原链的基因组克隆的分离及部分特性分析，以及该基因3'端限制性片段长度多态性的证明。
Biochemistry. 1985 Nov 5;24(23):6343-8. doi: 10.1021/bi00344a004.
2
Isolation and characterization of genomic clones corresponding to the human type II procollagen gene.与人类II型前胶原基因对应的基因组克隆的分离与鉴定。
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Structure and sequence of the chicken type II procollagen gene. Characterization of the region encoding the carboxyl-terminal telopeptide and propeptide.鸡Ⅱ型原胶原基因的结构与序列。编码羧基末端端肽和前肽区域的特征分析。
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引用本文的文献

1
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.
2
Determination of the single polyadenylation site of the human pro alpha 1(II) collagen gene.
Nucleic Acids Res. 1987 Nov 25;15(22):9499-504. doi: 10.1093/nar/15.22.9499.
3
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.编码人II型原胶原的cDNA克隆结构。α1（II）链与α1（I）链的相似性高于其他两种原纤维胶原的α链。
Biochem J. 1989 Sep 1;262(2):521-8. doi: 10.1042/bj2620521.
4
Molecular mechanisms of collagen gene expression.胶原蛋白基因表达的分子机制。
Mol Cell Biochem. 1989 Mar 16;86(1):5-18. doi: 10.1007/BF00231686.
5
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.遗传性关节眼病（斯蒂克勒综合征）与II型前胶原基因的遗传连锁分析
Am J Hum Genet. 1989 Nov;45(5):681-8.
6
Linkage disequilibrium between two restriction sites in the COL2A1 gene.COL2A1基因中两个限制性酶切位点之间的连锁不平衡。
Am J Hum Genet. 1990 Jun;46(6):1214-5.
7
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.