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人类主要组织相容性复合体(MHC)补体区域的DNA限制性片段长度多态性与通过等电聚焦定义的补体因子B(Bf)多态性呈现出绝对相关性。

A DNA restriction fragment length polymorphism in the complement region of the human MHC shows an absolute correlation with polymorphism of complement factor B(Bf) defined by isoelectric focusing.

作者信息

Fathallah D, Abbal M, Thomsen M, Cambon-Thomsen A, Campbell R D

出版信息

J Immunogenet. 1985 Dec;12(6):321-6.

PMID:3016098
Abstract

The gene coding for properdin factor Bf is located in the human major histocompatibility complex and is closely linked to the genes coding for the complement components C2 and C4. Recently, by Southern blotting techniques, a restriction fragment length polymorphism was identified using the endonuclease Taq I, which subdivides haplotypes carrying the F allele of factor Bf. The F allotype has also been subdivided at the protein level by isoelectric focusing into two subtypes Fa and Fb. We have investigated the DNA of 41 healthy unrelated individuals with known BfF subtypes using the 2.3 kb factor Bf cDNA probe to determine if there is any correlation between the Taq I polymorphism and F subtype. We have found that in 23 individuals who carried the Fb subtype a 6.6 kb Taq I fragment was present. The remaining 18 individuals carried the Fa subtype and showed only the 4.5 kb Taq I fragment on Southern blotting (P = 10(-12). This striking correlation (r = 1) between the Fb protein and DNA polymorphism is surprising especially as the 4.5 kb and 6.6 kb Taq I fragments overlap the Bf and C2 genes and the polymorphic Taq I site is located within the C2 gene.

摘要

备解素因子Bf的编码基因位于人类主要组织相容性复合体中,并且与补体成分C2和C4的编码基因紧密连锁。最近,通过Southern印迹技术,利用内切酶Taq I鉴定出一种限制性片段长度多态性,它可细分携带因子Bf的F等位基因的单倍型。F同种异型在蛋白质水平上也通过等电聚焦被细分为两个亚型Fa和Fb。我们使用2.3 kb的因子Bf cDNA探针研究了41名已知BfF亚型的健康无关个体的DNA,以确定Taq I多态性与F亚型之间是否存在任何相关性。我们发现,在23名携带Fb亚型的个体中,存在一个6.6 kb的Taq I片段。其余18名个体携带Fa亚型,在Southern印迹上仅显示4.5 kb的Taq I片段(P = 10⁻¹²)。Fb蛋白与DNA多态性之间这种显著的相关性(r = 1)令人惊讶,特别是因为4.5 kb和6.6 kb的Taq I片段与Bf和C2基因重叠,并且多态性Taq I位点位于C2基因内。

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