9号染色体长臂32区至34区结节性硬化症连锁群内的物理图谱构建。

Physical mapping within the tuberous sclerosis linkage group in region 9q32-q34.

作者信息

Harris R M, Carter N P, Griffiths B, Goudie D, Hampson R M, Yates J R, Affara N A, Ferguson-Smith M A

机构信息

University of Cambridge Department of Pathology, United Kingdom.

出版信息

Genomics. 1993 Feb;15(2):265-74. doi: 10.1006/geno.1993.1056.

DOI:10.1006/geno.1993.1056

PMID:8449490

Abstract

Pulsed-field gel electrophoresis and flow dot-blot analysis have been used to construct a physical map of the q32-q34 region of chromosome 9, where one of the loci responsible for tuberous sclerosis (TSC1) has been mapped by genetic linkage. Five linked groups of markers have been defined by pulsed-field gel electrophoresis. The orientation of these groups and the order of markers within them were determined by hybridization to flow-sorted dot blots derived from a panel of cell lines of chromosome 9 translocations to place probes proximal or distal to each breakpoint. The local map order in 9q32-q34 derived by application of this combination of techniques is as follows: centromere-ALAD-1.3 Mb-ORM/20 kbD9S16-GSN-250 kb-C5-HXB-1.9 Mb-D9S21-AK1-1.4 Mb-SPTAN1-ASS-800 kb-ABL-2 Mb-D9S10/350 Kb/DBH-telomere.

摘要

脉冲场凝胶电泳和流式点杂交分析已用于构建9号染色体q32 - q34区域的物理图谱，其中一个与结节性硬化症相关的基因座（TSC1）已通过遗传连锁定位。通过脉冲场凝胶电泳确定了五个连锁的标记组。这些组的方向以及其中标记的顺序是通过与源自一组9号染色体易位细胞系的流式分选点杂交进行杂交来确定的，以便将探针置于每个断点的近端或远端。通过应用这种技术组合得出的9q32 - q34区域的局部图谱顺序如下：着丝粒 - ALAD - 1.3兆碱基 - ORM / 20千碱基 - D9S16 - GSN - 250千碱基 - C5 - HXB - 1.9兆碱基 - D9S21 - AK1 - 1.4兆碱基 - SPTAN1 - ASS - 800千碱基 - ABL - 2兆碱基 - D9S10 / 350千碱基 / DBH - 端粒。