Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.
Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.
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一些遗传性软骨发育不良中 II 型胶原蛋白基因 (COL2A1) 的结构和分离分析。
DOI：
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发表时间：
1988
影响因子：
4
通讯作者：
Bryan Sykes
中科院分区：
文献类型：
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作者：
Paul Wordsworth;Donald Ogilvie;Linda Priestley;Roger SMITHt;And RUTH WYNNE;Bryan Sykes
对77名患有各种遗传性软骨发育不良的患者进行了编码主要软骨胶原蛋白（胶原蛋白II）的结构基因重排的筛查。分离的位点（COL2A1）进行了研究，在19个家系中使用三个限制性位点的二态性（PvuII，HindIII，和BamHI）和长度多态性作为连锁标记。在多发性骨骺发育不良、常染色体隐性迟发性脊椎骨骺发育不良、软骨发育不良、假性软骨发育不全、骨干失稳和毛发鼻指综合征的家系中，发现了COL2A1和突变位点之间的不一致分离。一个家系与畸形性发育不良是弱一致的。常染色体显性遗传迟发性脊椎骨骺发育不良和干骺端软骨发育不良（Schmid型）没有提供信息。我们的结论是，胶原蛋白II基因的突变是不是一个共同的特点，遗传性软骨发育不良。由于软骨细胞结合蛋白，软骨钙蛋白，也在COL2A1编码，我们的结论同样适用于这个基因。
Seventy-seven persons with a variety of heritable chondrodysplasias were screened for gross rearrangements of the structural gene encoding the major cartilage collagen, collagen II. None was found. Segregation of the locus (COL2A1) was studied in 19 pedigrees using three restriction site dimorphisms (shown by PvuII, HindIII, and BamHI) and a length polymorphism as linkage markers. Discordant segregation between COL2A1 and the mutant locus was seen in pedigrees with multiple epiphyseal dysplasia, autosomal recessive spondyloepiphyseal dysplasia tarda, hypochondroplasia, pseudoachondroplasia, diaphyseal aclasis, and trichorhinophalangeal syndrome. One pedigree with diastrophic dysplasia was weakly concordant. Autosomal dominant spondyloepiphyseal dysplasia tarda and metaphyseal chondrodysplasia (type Schmid) were not informative. We conclude that mutations of the collagen II gene are not a common feature of the heritable chondrodysplasias. Since the chondrocyte binding protein, chondrocalcin, is also encoded at COL2A1 our conclusions apply equally to this gene.
整个人类 pro alpha 1(II) 胶原蛋白基因的分离和部分表征。
影响因子：
14.9
作者：
Sangiorgi,FO;Benson-Chanda,V;deWet,WJ;Sobel,ME;Tsipouras,P;Ramirez,F
通讯作者：
Ramirez,F
骨骼发育不良的软骨骨形态和生物化学。
DOI：
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发表时间：
1981
期刊：
Birth defects original article series
影响因子：
--
作者：
Rimoin,DL;Sillence,DO
通讯作者：
Sillence,DO
胶原代谢的遗传性疾病。
影响因子：
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作者：
Hollister,DW;Byers,PH;Holbrook,KA
通讯作者：
Holbrook,KA