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人骨形态发生蛋白4基因的染色体定位

Chromosomal assignment of the human gene for bone morphogenetic protein 4.

作者信息

Tabas J A, Hahn G V, Cohen R B, Seaunez H N, Modi W S, Wozney J M, Zasloff M, Kaplan F S

机构信息

Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia 19104.

出版信息

Clin Orthop Relat Res. 1993 Aug(293):310-6.

PMID:8339498
Abstract

Bone morphogenetic proteins (BMP) are the only known biologic factors capable of inducing endochondral ossification at an extraskeletal site. Seven members of the BMP family have been identified thus far and are involved in osteoinduction and morphogenesis. The authors established the chromosomal assignment of the gene for BMP4 on human chromosome 14 by using somatic cell hybrid panels and molecular technology. The genetic map of chromosome 14 shows that Holt-Oram Syndrome (HOS), a heritable disorder of skeletal and cardiac development, may be located also on chromosome 14. Linkage analysis studies in large families with HOS will determine if the BMP4 gene is related to HOS. In addition, analysis shows that the BMP4 gene maps to a conserved region of the mouse and human genomes. The chromosomal locus of a gene is part of human anatomy and provides a genomic landmark for studies on the pathogenesis of heritable disorders.

摘要

骨形态发生蛋白(BMP)是目前已知的唯一能够在骨骼外部位诱导软骨内成骨的生物因子。迄今为止,已鉴定出BMP家族的七个成员,它们参与骨诱导和形态发生。作者通过使用体细胞杂交板和分子技术确定了人类14号染色体上BMP4基因的染色体定位。14号染色体的遗传图谱显示,骨骼和心脏发育的遗传性疾病霍尔特-奥拉姆综合征(HOS)也可能位于14号染色体上。对患有HOS的大家庭进行连锁分析研究将确定BMP4基因是否与HOS有关。此外,分析表明BMP4基因定位于小鼠和人类基因组的保守区域。基因的染色体位点是人体解剖学的一部分,为遗传性疾病发病机制的研究提供了一个基因组标志。

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