用于Xq远端和脆性X区域物理图谱构建的新型体细胞杂种

New somatic cell hybrids for physical mapping in distal Xq and the fragile X region.

作者信息

Ledbetter S A, Schwartz C E, Davies K E, Ledbetter D H

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Am J Med Genet. 1991 Feb-Mar;38(2-3):418-20. doi: 10.1002/ajmg.1320380254.

DOI:10.1002/ajmg.1320380254

PMID:2018083

Abstract

Somatic cell hybrids were constructed from 3 patients carrying X chromosome abnormalities with breakpoints in distal Xq: 1) 94-3, from a patient with 46,XX,t(X;15)(q25 or q26;q25), 2) 8121-A1, from a patient with 46,X,del(X)(q26), and 3) 2384-A2, from a patient with 46,X,del(X)(q27). The breakpoint of patient 94 is proximal to HPRT in q26, a significant distance from the fragile X locus. The breakpoint of patient 8121 is distal to F9, but proximal to DXS98, and is thus proximal to the fragile site region. The breakpoint of 2384 is distal to DXS98 but proximal to DXS52, placing it within the region of the fragile site. Use of these physical mapping reference points will aid in the rapid localization of new DNA markers to distal Xq and the fragile X region.

摘要

体细胞杂种是由3名携带X染色体异常且断点位于Xq远端的患者构建而成：1）94 - 3，来自一名患有46,XX,t(X;15)(q25或q26;q25)的患者；2）8121 - A1，来自一名患有46,X,del(X)(q26)的患者；3）2384 - A2，来自一名患有46,X,del(X)(q27)的患者。患者94的断点在q26中位于次黄嘌呤磷酸核糖基转移酶（HPRT）近端，与脆性X位点有一段显著距离。患者8121的断点在凝血因子IX（F9）远端，但在DXS98近端，因此位于脆性位点区域近端。2384的断点在DXS98远端但在DXS52近端，使其处于脆性位点区域内。使用这些物理图谱参考点将有助于新的DNA标记快速定位到Xq远端和脆性X区域。