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大疱性类天疱疮抗原(BPAG1):cDNA克隆及该基因在人6号染色体短臂上的定位

Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6.

作者信息

Sawamura D, Nomura K, Sugita Y, Mattei M G, Chu M L, Knowlton R, Uitto J

机构信息

Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

出版信息

Genomics. 1990 Dec;8(4):722-6. doi: 10.1016/0888-7543(90)90261-r.

Abstract

Bullous pemphigoid antigen (BPAG1), an integral component of the cutaneous basement membrane zone, serves as autoantigen in a blistering disease, bullous pemphigoid. In this study, we have generated cDNAs corresponding to human BPAG1 sequences. Two cDNAs, a 0.45-kb PCR product synthesized with human keratinocyte RNA as template and a 2.2-kb cDNA isolated from human keratinocyte lambda gt11 library, were utilized for chromosomal in situ hybridizations to establish the genomic location of the BPAG1 gene. Metaphase chromosomes of phytohemagglutinin-stimulated human peripheral blood leukocytes were examined by hybridizations with 3H-labeled cDNAs, and the chromosomes were identified by R-banding (fluorochrome-photolysis-Giemsa method). The results indicated that the human BPAG1 gene is at locus 6p11-6p12. This conclusion was supported by hybridizations with a panel of human X rodent hybrid cell DNA, which indicated concordance with human chromosome 6. Because different genes encoding human basement membrane components have been mapped previously to chromosomes other than 6, the results further indicate that human basement membrane zone genes are widely dispersed within the human genome.

摘要

大疱性类天疱疮抗原(BPAG1)是皮肤基底膜带的一个组成部分,在一种水疱性疾病——大疱性类天疱疮中作为自身抗原。在本研究中,我们已产生了与人类BPAG1序列相对应的cDNA。两个cDNA,一个是以人类角质形成细胞RNA为模板合成的0.45kb PCR产物,另一个是从人类角质形成细胞λgt11文库中分离出的2.2kb cDNA,被用于染色体原位杂交以确定BPAG1基因的基因组定位。用3H标记的cDNA杂交检测植物血凝素刺激的人类外周血白细胞的中期染色体,并通过R带(荧光染料-光解-吉姆萨法)鉴定染色体。结果表明人类BPAG1基因位于6p11 - 6p12位点。与一组人类-啮齿动物杂交细胞DNA的杂交结果支持了这一结论,该结果表明与人类6号染色体一致。由于先前已将编码人类基底膜成分的不同基因定位到6号染色体以外的其他染色体上,这些结果进一步表明人类基底膜带基因在人类基因组中广泛分布。

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