对一个大型法国家族性马凡综合征家系中五个纤维状胶原蛋白基因座进行连锁分析。
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
作者信息
Boileau C, Jondeau G, Bonaiti C, Coulon M, Delorme G, Dubourg O, Bourdarias J P, Junien C
机构信息
Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, Boulogne, France.
出版信息
J Med Genet. 1990 Feb;27(2):78-81. doi: 10.1136/jmg.27.2.78.
Abstract
Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small positive lod score (Z = 0.99, theta = 0.00) was obtained for the COL3A1-COL5A2 gene cluster located on chromosome 2.
摘要
马凡综合征是一组具有广泛临床变异性的常染色体显性遗传性结缔组织疾病。我们采用候选基因法，试图在一个无眼部表现的大型法国家系中定位马凡综合征的基因缺陷。我们用五个结构型原胶原基因的多态性探针进行了连锁研究。所获数据排除了马凡综合征与两个主要的纤维状胶原（COL1A1、COL1A2和COL2A1）基因的连锁关系。这些结果证实了之前从小家系中获得的已发表数据。位于2号染色体上的COL3A1-COL5A2基因簇获得了一个较小的正连锁值（Z = 0.99，θ = 0.00）。
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Reply to "The question of heterogeneity in Marfan syndrome".对《马凡综合征中的异质性问题》的回复
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本文引用的文献
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The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue.马凡氏综合征的心血管方面：一种遗传性结缔组织疾病。
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The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.编码纤维蛋白原Aα、Bβ和γ链的基因定位于4q2。
Am J Hum Genet. 1984 Jul;36(4):760-8.
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An RFLP associated with the human type III collagen gene (COL3A1).一种与人类III型胶原蛋白基因（COL3A1）相关的限制性片段长度多态性。
Nucleic Acids Res. 1985 Jun 25;13(12):4609. doi: 10.1093/nar/13.12.4609.
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Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.人类α1（III）和α2（V）前胶原基因位于2号染色体长臂上。
Proc Natl Acad Sci U S A. 1985 May;82(10):3385-9. doi: 10.1073/pnas.82.10.3385.
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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。
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Clinical significance of the echocardiographic degree of mitral valve prolapse.二尖瓣脱垂超声心动图程度的临床意义。
Am Heart J. 1988 Apr;115(4):842-9. doi: 10.1016/0002-8703(88)90888-5.
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