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与精神分裂症相关的一种易位所涉及的11号染色体断点区域3兆碱基范围的长程限制酶切图谱:断点的定位及邻近基因的搜寻

A long-range restriction map across 3 Mb of the chromosome 11 breakpoint region of a translocation linked to schizophrenia: localization of the breakpoint and the search for neighbouring genes.

作者信息

Millar J K, Brown J, Maule J C, Shibasaki Y, Christie S, Lawson D, Anderson S, Wilson-Annan J C, Devon R S, St Clair D M, Blackwood D H, Muir W J, Porteous D J

机构信息

MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

出版信息

Psychiatr Genet. 1998 Autumn;8(3):175-81. doi: 10.1097/00041444-199800830-00007.

Abstract

A balanced t(1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related mental illness in a single large Scottish pedigree. We have constructed a long-range restriction map covering at least 3 Mb of the chromosome 11 breakpoint region and conducted searches for genes whose expression could be altered by the translocation, resulting in schizophrenia. Novel transcribed sequences of unknown function clustered around putative CpG islands, located approximately 500 kb and 700 kb above the breakpoint, represent the only evidence to date for expressed genes within the mapped region.

摘要

在一个大型苏格兰家系中,一种平衡的t(1;11)(q42.1;q14.3)易位与精神分裂症及相关精神疾病共分离。我们构建了一个覆盖11号染色体断点区域至少3 Mb的长程限制性图谱,并搜索了那些表达可能因易位而改变从而导致精神分裂症的基因。功能未知的新转录序列聚集在断点上方约500 kb和700 kb处的假定CpG岛周围,这是迄今为止该定位区域内存在表达基因的唯一证据。

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