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II型胶原蛋白基因型与软骨发育不全的非随机关联。

Nonrandom association of a type II procollagen genotype with achondroplasia.

作者信息

Eng C E, Pauli R M, Strom C M

出版信息

Proc Natl Acad Sci U S A. 1985 Aug;82(16):5465-9. doi: 10.1073/pnas.82.16.5465.

DOI:10.1073/pnas.82.16.5465
PMID:2991928
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC391143/
Abstract

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.

摘要

软骨发育不全是一种常染色体显性疾病，涉及软骨内骨形成缺陷。II型胶原蛋白是软骨的主要胶原蛋白。我们使用II型前胶原蛋白基因探针pgHCol(II)A在正常白种人群体中发现了一个HindIII多态性位点。该位点的存在产生一条7.0千碱基（kb）的条带；其缺失产生一条14.0 kb的条带。与正常对照群体相比，我们发现散发性软骨发育不全的无关个体群体在基因型分布和等位基因频率上存在显著偏差。32名软骨发育不全患者的HindIII基因型频率分别为：7/7基因型为0.41（对照组为0.08），7/14基因型为0.34（对照组为0.54），14/14基因型为0.25（对照组为0.37）。软骨发育不全患者中“7”等位基因明显的平衡过剩可能反映了导致软骨发育不全的突变的易感性，或者可能是导致软骨发育不全的突变的结果。无论哪种情况，这些发现都表明II型前胶原蛋白基因与软骨发育不全有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/d59800bdacda/pnas00356-0238-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/84f2d32f46ec/pnas00356-0237-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/164bec67e207/pnas00356-0237-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/bba13a3b06fd/pnas00356-0237-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/1a95c94d4ced/pnas00356-0238-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/abe0579eeda4/pnas00356-0238-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/c8de6d65cb5d/pnas00356-0238-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/360fedab174f/pnas00356-0238-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/d59800bdacda/pnas00356-0238-e.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/84f2d32f46ec/pnas00356-0237-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/164bec67e207/pnas00356-0237-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/bba13a3b06fd/pnas00356-0237-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/1a95c94d4ced/pnas00356-0238-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/abe0579eeda4/pnas00356-0238-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/c8de6d65cb5d/pnas00356-0238-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/360fedab174f/pnas00356-0238-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7f8/391143/d59800bdacda/pnas00356-0238-e.jpg

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引用本文的文献

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The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis.1例Langer-Saldino软骨发育不全病例中透明软骨II型胶原蛋白的缺失及蛋白聚糖结构的改变

本文引用的文献

1
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis.软骨发育不全和软骨发育低下。临床变异与椎管狭窄。
J Bone Joint Surg Br. 1981;63B(4):508-15. doi: 10.1302/0301-620X.63B4.7298674.
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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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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。
Nucleic Acids Res. 1984 Jan 25;12(2):1025-38. doi: 10.1093/nar/12.2.1025.
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Immunological studies on collagen type transition in chondrogenesis.软骨形成过程中胶原类型转变的免疫学研究。
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Structurally distinct collagen types.结构不同的胶原类型。
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