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致死性成骨不全与一个胶原蛋白基因缺失。长度多态性提供了另一种解释。

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.

作者信息

Sykes B C, Ogilvie D J, Wordsworth B P

出版信息

Hum Genet. 1985;70(1):35-7. doi: 10.1007/BF00389455.

DOI:10.1007/BF00389455
PMID:3997150
Abstract

A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorphism just beyond the 3'-end of the gene. We suggest that this polymorphism provides an alternative explanation of the original results.

摘要

编码II型（软骨）胶原蛋白的基因3'端附近300个碱基对的缺失与围产期致死性成骨不全的发病机制有关。我们发现在正常的亚洲印度人和西印度人群中，由于该基因3'端外侧的长度多态性，类似的缺失以高频率发生。我们认为这种多态性为原始结果提供了另一种解释。

相似文献

1
Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.致死性成骨不全与一个胶原蛋白基因缺失。长度多态性提供了另一种解释。
Hum Genet. 1985;70(1):35-7. doi: 10.1007/BF00389455.
2
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.内含子介导的重组可能在致死型成骨不全中导致α1 型 I 型胶原链的缺失。
Proc Natl Acad Sci U S A. 1985 May;82(9):2870-4. doi: 10.1073/pnas.82.9.2870.
3
Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.致死性先天性成骨不全与α1（I）型胶原样基因的300个碱基对缺失
Br Med J (Clin Res Ed). 1984 Feb 11;288(6415):431-4. doi: 10.1136/bmj.288.6415.431.
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Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.三名无亲缘关系的个体患有围生期致死性成骨不全症，该病由I型胶原α2链中相同的甘氨酸502丝氨酸替换所致。
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Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.α2（I）胶原蛋白基因大片段缺失的杂合性对I型胶原蛋白的分泌有显著影响，并导致围产期致死性成骨不全。
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Collagen genes and proteins in osteogenesis imperfecta.成骨不全症中的胶原蛋白基因与蛋白质
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Prog Clin Biol Res. 1985;177:37-51.
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Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.围产期致死型成骨不全症中胶原蛋白基因的内部缺失。
Nature. 1983;304(5921):78-80. doi: 10.1038/304078a0.
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引用本文的文献

1
A highly polymorphic region 3' to the human type II collagen gene.人类II型胶原蛋白基因3'端的一个高度多态性区域。
Nucleic Acids Res. 1985 Jul 11;13(13):4613-22. doi: 10.1093/nar/13.13.4613.
2
Segregation of all four major fibrillar collagen genes in the Marfan syndrome.马凡综合征中所有四个主要纤维状胶原基因的分离。
Am J Hum Genet. 1987 Dec;41(6):1071-82.
3
Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome.原α2（I）胶原蛋白基因中的长度多态性：马凡综合征一例的另一种解释。

本文引用的文献

1
The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.人类胰岛素基因附近的高度多态性区域由简单串联重复序列组成。
Nature. 1982 Jan 7;295(5844):31-5. doi: 10.1038/295031a0.
2
Lethal osteogenesis imperfecta and a gene deletion.致死性成骨不全与基因缺失
Br Med J (Clin Res Ed). 1984 May 5;288(6427):1380-1. doi: 10.1136/bmj.288.6427.1380-b.
3
Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.致死性先天性成骨不全与α1（I）型胶原样基因的300个碱基对缺失
Hum Genet. 1986 May;73(1):91-2. doi: 10.1007/BF00292673.
4
Diagnosis of genetic disease using recombinant DNA.使用重组DNA诊断遗传疾病。
Hum Genet. 1986 May;73(1):1-11. doi: 10.1007/BF00292654.
5
Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.反对编码II型胶原蛋白（COL2A1）的结构基因作为软骨发育不全突变位点的证据。
J Med Genet. 1986 Feb;23(1):19-22. doi: 10.1136/jmg.23.1.19.
6
Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes.家族性二尖瓣脱垂的遗传分离分析显示与纤维状胶原基因无连锁关系。
Br Heart J. 1989 Mar;61(3):300-6. doi: 10.1136/hrt.61.3.300.
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DNA polymorphism and the study of disease associations.DNA多态性与疾病关联研究
Hum Genet. 1988 Apr;78(4):299-312. doi: 10.1007/BF00291724.
8
Homozygous osteogenesis imperfecta unlinked to collagen I genes.与I型胶原基因无关的纯合子型成骨不全症
Hum Genet. 1988 Mar;78(3):233-6. doi: 10.1007/BF00291667.
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A VNTR immediately adjacent to the human pseudoautosomal telomere.
Nucleic Acids Res. 1990 Feb 11;18(3):471-6. doi: 10.1093/nar/18.3.471.
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Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.
Hum Genet. 1990 Oct;85(5):525-6. doi: 10.1007/BF00194230.
Br Med J (Clin Res Ed). 1984 Feb 11;288(6415):431-4. doi: 10.1136/bmj.288.6415.431.
4
Molecular basis of length polymorphism in the human zeta-globin gene complex.人类ζ-珠蛋白基因复合体长度多态性的分子基础。
Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022-6. doi: 10.1073/pnas.80.16.5022.
5
DNA in heritable disease.遗传性疾病中的DNA
Lancet. 1983 Oct 1;2(8353):787-8. doi: 10.1016/s0140-6736(83)92314-0.
6
Identification and characterization of the human type II collagen gene (COL2A1).人类Ⅱ型胶原蛋白基因（COL2A1）的鉴定与特性分析
Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9. doi: 10.1073/pnas.82.9.2555.