PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2.
作者信息
Baker R, Lynch J, Ferguson L, Priestley L, Sykes B
机构信息
University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, UK.
出版信息
Nucleic Acids Res. 1991 Aug 11;19(15):4315. doi: 10.1093/nar/19.15.4315.
Abstract
摘要
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Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.在人类原α2（I）型胶原基因中检测到一种高频RsaI多态性，该多态性与常染色体显性形式的成骨不全相关。
EMBO J. 1985 Jul;4(7):1745-8. doi: 10.1002/j.1460-2075.1985.tb03845.x.
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Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.人类原α2（I）型胶原基因中DNA序列的多态性
J Med Genet. 1985 Jun;22(3):182-6. doi: 10.1136/jmg.22.3.182.
3
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.显性遗传的成骨不全症与I型胶原基因座COL1A1和COL1A2的一致连锁关系。
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