Nonrandom association of a type II procollagen genotype with achondroplasia.
Nonrandom association of a type II procollagen genotype with achondroplasia.
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II 型前胶原基因型与软骨发育不全的非随机关联。
DOI：
10.1073/pnas.82.16.5465
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发表时间：
1985
影响因子：
11.1
通讯作者：
Strom,CM
中科院分区：
文献类型：
--
作者：
Eng,CE;Pauli,RM;Strom,CM
软骨发育不全是一种常染色体显性遗传病，涉及软骨内骨形成缺陷。II型胶原是软骨的主要胶原。我们利用II型前胶原蛋白基因探针pgHCol(II) a在正常高加索人群中发现了一个HindIII多态性位点。该位点的存在产生一个7.0千碱基（kb）的频带；它的缺失产生了一个14.0 kb的波段。我们发现，与正常对照人群相比，散发性软骨发育不全的无亲缘关系个体在基因型分布和等位基因频率上存在显著偏差。32例软骨发育不全患者的HindIII基因型频率为：7/7基因型0.41（对照组，0.08），7/14基因型0.34（对照组，0.54），14/14基因型0.25（对照组，0.37）。软骨发育不全个体中“7”等位基因的明显平衡过剩可能反映了导致软骨发育不全的突变的易感性，也可能是导致软骨发育不全的突变的结果。在任何一种情况下，这些发现表明II型前胶原基因与软骨发育不全有关。
Achondroplasia is an autosomal dominant disorder that involves defective endochondral bone formation. Type II collagen is the predominant collagen of cartilage. We found a HindIII polymorphic site in the normal Caucasian population by using the type II procollagen gene probe pgHCol(II)A. The presence of this site yields a 7.0-kilobase (kb) band; its absence yields a 14.0-kb band. We found a significant deviation in genotype distribution and allele frequencies in a population of unrelated individuals with sporadic achondroplasia, compared with the normal control population. The HindIII genotype frequencies in 32 individuals with achondroplasia are 0.41 for the 7/7 genotype (controls, 0.08), 0.34 for the 7/14 genotype (controls, 0.54), and 0.25 for the 14/14 genotype (controls, 0.37). The apparent equilibrium excess of the "7" allele in individuals with achondroplasia may reflect either a predisposition for the mutation that causes achondroplasia or it could be the result of the achondroplasia-causing mutation. In either case, these findings suggest an association of the type II procollagen gene with achondroplasia.