两个Xp标记DXS16和DXS143的物理图谱。

Physical mapping of two Xp markers DXS16 and DXS143.

作者信息

Thies U, Rao V V, Engel W, Schmidtke J

机构信息

Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.

出版信息

Hum Genet. 1991 Feb;86(4):418-20. doi: 10.1007/BF00201850.

DOI:10.1007/BF00201850

PMID:1999347

Abstract

Lymphocyte karyotyping of an infant girl with the clinical features of microphthalmia, iridoschisis, goiter, hip joint dysplasia, labium synechia and craniotabes revealed an Xp deletion. The lymphocyte karyotypes of the parents were normal. Bromodeoxyuridine incorporation studies showed that, in 42 out of 43 metaphases, the deleted X chromosome was late replicating. In one metaphase, the normal X chromosome was observed to be allocyclic. Using DNA markers from the Xp22 region, the breakpoint was assigned distal to DXS16 (pXUT23) and proximal to DXS143 (dic56). Dosage intensity measurements confirmed that the STS gene and the DNA marker DXS31 were involved in the deleted area. Restriction fragment length polymorphism analysis revealed that the paternally derived X-chromosome was deleted.

摘要

对一名患有小眼症、虹膜裂、甲状腺肿、髋关节发育不良、阴唇粘连和颅骨软化等临床特征的女婴进行淋巴细胞核型分析，结果显示存在Xp缺失。其父母的淋巴细胞核型正常。溴脱氧尿苷掺入研究表明，在43个中期相中，有42个显示缺失的X染色体复制延迟。在一个中期相中，观察到正常的X染色体呈异周期。使用来自Xp22区域的DNA标记，断点被定位在DXS16（pXUT23）远端和DXS143（dic56）近端。剂量强度测量证实，STS基因和DNA标记DXS31位于缺失区域。限制性片段长度多态性分析显示，缺失的是父源X染色体。