血小板衍生生长因子A链：血小板衍生生长因子A（PDGFA）定位于染色体7p22的确认及一种异常小卫星的描述

Platelet-derived growth factor A chain: confirmation of localization of PDGFA to chromosome 7p22 and description of an unusual minisatellite.

作者信息

Bonthron D, Collins T, Grzeschik K H, van Roy N, Speleman F

机构信息

Human Genetics Unit, Edinburgh University, Western General Hospital, United Kingdom.

出版信息

Genomics. 1992 Jun;13(2):257-63. doi: 10.1016/0888-7543(92)90240-s.

DOI:10.1016/0888-7543(92)90240-s

PMID:1612586

Abstract

The human PDGFA gene, encoding the A chain of platelet-derived growth factor, has been previously cloned and characterized, but two conflicting chromosomal localizations have been presented. To resolve this controversy, we have now performed nonisotopic in situ hybridization using new genomic PDGFA subclones and analyzed somatic cell hybrid DNAs for the presence of human PDGFA by polymerase chain reaction. The results confirm our previous assignment of PDGFA to chromosome 7p22. New sequence data from the PDGFA locus have been obtained and analyzed. An unusual minisatellite, which includes an evolutionarily conserved protein-coding region of exon 4, was found within IVS4. The minisatellite includes an embedded polymorphic pentanucleotide microsatellite repeat. Analysis of this polymorphism and in situ hybridization both locate PDGFA outside the monosomic region in a patient with a de novo deletion of the short arm of chromosome 7 [del (7)(p22.1-pter)].

摘要

人类血小板衍生生长因子 A 链编码基因（PDGFA）先前已被克隆和鉴定，但出现了两种相互矛盾的染色体定位结果。为解决这一争议，我们现在使用新的基因组 PDGFA 亚克隆进行了非同位素原位杂交，并通过聚合酶链反应分析体细胞杂种 DNA 中人类 PDGFA 的存在情况。结果证实我们先前将 PDGFA 定位于染色体 7p22。已获得并分析了来自 PDGFA 基因座的新序列数据。在 IVS4 内发现了一个不寻常的小卫星，其中包括外显子 4 的一个进化保守的蛋白质编码区。该小卫星包含一个嵌入的多态性五核苷酸微卫星重复序列。对这种多态性的分析和原位杂交均将 PDGFA 定位在一名 7 号染色体短臂新发缺失[del(7)(p22.1 - pter)]患者的单体区域之外。