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马凡综合征中所有四个主要纤维状胶原基因的分离。

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

作者信息

Ogilvie D J, Wordsworth B P, Priestley L M, Dalgleish R, Schmidtke J, Zoll B, Sykes B C

机构信息

Nuffield Department of Pathology, University of Oxford, England.

出版信息

Am J Hum Genet. 1987 Dec;41(6):1071-82.

PMID:3479900
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684352/
Abstract

Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the other Type I locus (COL1A1). The Marfan syndrome also segregated independently of the structural loci for Type II and Type III collagen in these two families. This is evidence against the Marfan syndrome being, in general, due to mutations in the major fibrillar collagen genes.

摘要

在编码三种主要纤维状胶原蛋白的基因处或其附近的连锁标记，被用于分析六个患有常染色体显性遗传马方综合征的家系中这些基因座的分离情况。四个家系在I型胶原蛋白基因座之一（COL1A2）处出现不一致，其中两个在另一个I型基因座（COL1A1）处也出现不一致。在这两个家系中，马方综合征也与II型和III型胶原蛋白的结构基因座独立分离。这证明一般情况下马方综合征并非主要由主要纤维状胶原蛋白基因突变所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc1/1684352/04618235c5f5/ajhg00135-0119-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc1/1684352/04618235c5f5/ajhg00135-0119-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cc1/1684352/04618235c5f5/ajhg00135-0119-a.jpg

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引用本文的文献

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Marfan syndrome: light at the end of the tunnel?马凡综合征：曙光在望？

本文引用的文献

1
The Marfan syndrome: a deficiency in chemically stable collagen cross-links.马凡综合征：化学稳定的胶原蛋白交联缺陷。
N Engl J Med. 1981 Oct 22;305(17):988-91. doi: 10.1056/NEJM198110223051705.
2
Marfan syndrome: abnormal alpha 2 chain in type I collagen.马凡综合征：I型胶原蛋白中的α2链异常。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
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Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.重组DNA技术人类基因定位委员会报告
Am J Hum Genet. 1990 Apr;46(4):643-5.
4
Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome.不对称性马方综合征病例中的单侧微纤维异常
Am J Hum Genet. 1990 Apr;46(4):661-71.
5
Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.在家族中，弹性蛋白相关微原纤维异常与马凡氏综合征表型的共分离现象。
Am J Hum Genet. 1990 Apr;46(4):652-60.
6
The Marfan syndrome--analysis of growth and cardiovascular manifestation.马凡综合征——生长与心血管表现分析
Eur J Pediatr. 1990 Apr;149(7):452-6. doi: 10.1007/BF01959393.
7
Marfan syndrome: absence of type I or III collagen structural defects in 25 patients.马凡综合征：25例患者中未发现I型或III型胶原蛋白结构缺陷。
J Inherit Metab Dis. 1990;13(2):219-26. doi: 10.1007/BF01799689.
8
Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.通过鉴定一致的1型胶原蛋白等位基因对成骨不全症进行产前诊断。
J Med Genet. 1991 Mar;28(3):145-50. doi: 10.1136/jmg.28.3.145.
9
A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.在患有马凡氏综合征变体的个体中，原α2（I）胶原链三螺旋结构域的非甘氨酸位置发生了替代。
J Clin Invest. 1990 Nov;86(5):1723-8. doi: 10.1172/JCI114897.
10
Linkage analysis in Marfan syndrome.马凡综合征的连锁分析
J Med Genet. 1990 Feb;27(2):86-90. doi: 10.1136/jmg.27.2.86.
Cytogenet Cell Genet. 1984;37(1-4):210-73. doi: 10.1159/000132011.
4
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.与人类I型前胶原的原α2（I）基因相关的限制性片段长度多态性。应用于一个常染色体显性形式的成骨不全症家族。
J Clin Invest. 1983 Oct;72(4):1262-7. doi: 10.1172/JCI111082.
5
Structurally distinct collagen types.结构不同的胶原类型。
Annu Rev Biochem. 1980;49:957-1003. doi: 10.1146/annurev.bi.49.070180.004521.
6
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.
7
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。
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8
Hypervariable 'minisatellite' regions in human DNA.人类DNA中的高变“微卫星”区域。
Nature. 1985;314(6006):67-73. doi: 10.1038/314067a0.
9
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Am J Hum Genet. 1986 Mar;38(3):269-79.