Achondroplasia is not caused by mutation in the gene for type II collagen.
Achondroplasia is not caused by mutation in the gene for type II collagen.
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软骨发育不全不是由 II 型胶原蛋白基因突变引起的。
DOI：
10.1002/ajmg.1320290433
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Pyeritz,RE
中科院分区：
文献类型：
--
作者：
Francomano,CA;Pyeritz,RE
软骨发育不全是最常见的人类骨骼发育不良。它作为常染色体显性性状遗传，但潜在的生化原因尚不清楚。使用涵盖 COL2A1（II 型胶原蛋白的结构基因）的探针对 49 名软骨发育不全患者和两个多重家族的基因组 DNA 进行了研究。有两条证据反对 COL2A1 突变是软骨发育不全的原因：(1) 先证者 DNA 的 Southern 印迹分析中没有发现总体重排，(2) 多重家族的连锁研究表明软骨发育不全和 COL2A1 等位基因的遗传不一致。
Achondroplasia is the most common human skeletal dysplasia. It is inherited as an autosomal dominant trait but the underlying biochemical cause is unknown. Genomic DNA from 49 affected individuals and two multiplex families with achondroplasia was studied using probes spanning COL2A1, the structural gene for type II collagen. Two lines of evidence speak against mutationin COL2A1 as the cause of achondroplasia: (1) no gross rearrangements areseen on Southern blot analysis of DNA from probands, and (2) linkage studies in multiplex families demonstrate discordant inheritance of achondroplasia and COL2A1 alleles.