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人类原α2(1)胶原蛋白基因中的两个新的多态性标记。

Two new polymorphic markers in the human pro alpha 2(1) collagen gene.

作者信息

Brebner D K, Grobler-Rabie A F, Bester A J, Mathew C G, Boyd C D

出版信息

Hum Genet. 1985;70(1):25-7. doi: 10.1007/BF00389452.

DOI:10.1007/BF00389452
PMID:2987104
Abstract

Structural defects in the human type 1 collagen genes are known to be the cause of several inherited disorders of connective tissue, such as osteogenesis imperfecta. The analysis and prenatal diagnosis of these disorders would be facilitated by establishing a set of polymorphic markers at these gene loci. We have previously reported the presence of an Msp 1 restriction fragment length polymorphism in the pro alpha 2 (1) collagen genes of several Southern African populations (Grobler-Rabie et al., in press). This report describes the detection of a Bgl II and an EcoRI polymorphism in the pro alpha 2 gene of South African Blacks.

摘要

已知人类1型胶原蛋白基因的结构缺陷是几种遗传性结缔组织疾病的病因，如成骨不全症。在这些基因位点建立一组多态性标记将有助于对这些疾病进行分析和产前诊断。我们之前报道过在几个南部非洲人群的原α2(1)胶原蛋白基因中存在Msp 1限制性片段长度多态性（Grobler-Rabie等人，即将发表）。本报告描述了在南非黑人的原α2基因中检测到Bgl II和EcoRI多态性。

相似文献

1
Two new polymorphic markers in the human pro alpha 2(1) collagen gene.人类原α2(1)胶原蛋白基因中的两个新的多态性标记。
Hum Genet. 1985;70(1):25-7. doi: 10.1007/BF00389452.
2
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.
3
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.
4
DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated Finnish population.在基因隔离的芬兰人群中用Bgl II检测I型胶原基因的DNA多态性。
Hum Genet. 1987 Jan;75(1):79-80. doi: 10.1007/BF00273846.
5
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。
Hum Genet. 1986 May;73(1):91-2. doi: 10.1007/BF00292673.
6
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.
7
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.与前α2（I）型胶原蛋白基因相关的突变是导致几例I型成骨不全症的原因。
J Med Genet. 1986 Oct;23(5):411-6. doi: 10.1136/jmg.23.5.411.
8
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.III型成骨不全症：I型胶原蛋白结构基因COL1A1和COL1A2中的突变不一定是致病原因。
J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492.
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DNA polymorphisms in collagen genes: potential use in the study of disease.胶原蛋白基因中的DNA多态性：在疾病研究中的潜在用途。
Prog Clin Biol Res. 1985;177:37-51.
10
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.人类原α2（I）胶原蛋白基因特异性分子单倍型在轻度常染色体显性成骨不全症连锁分析中的应用。
Am J Hum Genet. 1986 Mar;38(3):269-79.

引用本文的文献

1
Genetic markers on chromosome 7.7号染色体上的遗传标记。
J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294.
2
DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated Finnish population.在基因隔离的芬兰人群中用Bgl II检测I型胶原基因的DNA多态性。
Hum Genet. 1987 Jan;75(1):79-80. doi: 10.1007/BF00273846.
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

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Evolution of the hemoglobin S and C genes in world populations.世界人群中血红蛋白S和C基因的演变。
Science. 1980 Jul 18;209(4454):388-91. doi: 10.1126/science.7384810.
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Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.一名成骨不全症先证者中缩短的前α2（I）链的合成及前α2（I）链合成减少。
J Biol Chem. 1983 Jun 25;258(12):7721-8.
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Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene.
Hum Genet. 1986 May;73(1):91-2. doi: 10.1007/BF00292673.
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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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Bgl II RFLPs in the COL1A2 gene in the Finnish population. A comment.芬兰人群中COL1A2基因的Bgl II限制性片段长度多态性。一则评论。
Hum Genet. 1988 Jan;78(1):109. doi: 10.1007/BF00291251.
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Prenatal diagnosis and prevention of inherited abnormalities of collagen.遗传性胶原异常的产前诊断与预防
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Comparative map for mice and humans.小鼠与人类的比较图谱。
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人I型前胶原原α2链cDNA的结构。与鸡的原α2（I）链cDNA比较，确定了该蛋白质和基因在结构上保守的特征。
Biochemistry. 1983 Mar 1;22(5):1139-45. doi: 10.1021/bi00274a023.
4
Localization of the human 2(I) collagen gene (COL1A2) to chromosome 7q22.人类2（I）型胶原蛋白基因（COL1A2）定位于染色体7q22。
Cytogenet Cell Genet. 1983;36(3):586-7. doi: 10.1159/000131978.
5
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons.人类原α1（I）型胶原蛋白基因结构揭示了内含子和外显子模式的进化保守性。
Nature. 1984;310(5975):337-40. doi: 10.1038/310337a0.
6
Isolation and characterization of a human pro alpha 2(I) collagen gene segment.人原α2（I）型胶原基因片段的分离与鉴定
J Invest Dermatol. 1984 Mar;82(3):265-9. doi: 10.1111/1523-1747.ep12260213.
7
DNA restriction fragment length polymorphisms and heterozygosity in the human genome.人类基因组中的DNA限制性片段长度多态性与杂合性
Hum Genet. 1984;66(1):1-16. doi: 10.1007/BF00275182.
8
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.
9
Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.人原α2（I）型胶原基因3'端的分析。培养的成纤维细胞中多个聚腺苷酸化位点的利用。
J Biol Chem. 1983 Aug 25;258(16):10128-35.
10
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.利用DNA多态性进行产前诊断。关于95例镰状细胞病或β地中海贫血高危妊娠的报告。
N Engl J Med. 1983 May 5;308(18):1054-8. doi: 10.1056/NEJM198305053081803.