MOLECULAR MAPPING OF UNCHARACTERISTICALLY SMALL 5Q DELETIONS IN 2 PATIENTS WITH THE 5Q- SYNDROME - DELINEATION OF THE CRITICAL REGION ON 5Q AND IDENTIFICATION OF A 5Q- BREAKPOINT
MOLECULAR MAPPING OF UNCHARACTERISTICALLY SMALL 5Q DELETIONS IN 2 PATIENTS WITH THE 5Q- SYNDROME - DELINEATION OF THE CRITICAL REGION ON 5Q AND IDENTIFICATION OF A 5Q- BREAKPOINT
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DOI：
10.1006/geno.1994.1090
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发表时间：
1994-02-01
期刊：
影响因子：
4.4
通讯作者：
WAINSCOAT, JS
中科院分区：
文献类型：
--
作者：
BOULTWOOD, J;FIDLER, C;WAINSCOAT, JS
分子定位技术已经确定了两名5 q综合征患者的基因缺失区域，并发现了非典型的5 q小缺失（5 q31-q33）。在外周血细胞组分中研究了定位于5 q23-qter的10个基因（着丝粒-CSF 2-EGFR 1- FGFA - GRL -ADRB 2-CSF 1 R-β-GLUH 1-NKSF 1-FLT 4-端粒）的等位基因丢失。基因剂量实验表明，CSF 2，EGFR 1，NKSF 1和FLT 4保留在两名患者的5 q染色体上，FGFA保留在一名患者中，因此将这些基因置于关键区域之外。GRL、ADRB 2、CSF 1 R、GLUH和GLUH 1在两例患者中均被删除。近端断裂点位于EGR 1和FGFA之间的一名患者和FGFA和ADRB 2之间的另一名患者，和远端断裂点位于GLUH 1和NKSF 1之间的两名患者。脉冲场凝胶电泳被用来映射的5 q缺失断点，和断裂点特异性片段检测与FGFA在粒细胞，但不是一个病人的淋巴细胞部分。本研究确定了5 q综合征中5 q染色体基因丢失的关键区域，并在FGFA和NKSF 1之间的5.6 Mb区域中定位了一个假定的肿瘤抑制基因。(C)1994年出版社出版。
Molecular mapping techniques have defined the region of gene loss in two patients with the 5q- syndrome and uncharacteristically small 5q deletions (5q31-q33). The allelic loss of 10 genes localized to 5q23-qter (centromere - CSF2 - EGR1 - FGFA - GRL - ADRB2 CSF1R- SPARC -GLUH1 -NKSF1 -FLT4-telomere) was investigated in peripheral blood cell fractions. Gene dosage experiments demonstrated that CSF2, EGR1, NKSF1, and FLT4 were retained on the 5q-chromosome in both patients and that FGFA was retained in one patient, thus placing these genes outside the critical region. GRL, ADRB2, CSF1R, SPARC, and GLUH1 were shown to be deleted in both patients. The proximal breakpoint is localized between EGR1 and FGFA in one patient and between FGFA and ADRB2 in the other, and the distal breakpoint is localized between GLUH1 and NKSF1 in both patients. Pulsed-field gel electrophoresis was used to map the 5q deletion breakpoints, and breakpoint-specific fragments were detected with FGFA in the granulocyte but not the lymphocyte fraction of one patient. This study has established the critical region of gene loss of the 5q-chromosome in the 5q- syndrome, giving the location for a putative tumor-suppressor gene in the 5.6-Mb region between FGFA and NKSF1. (C) 1994 Academic Press, Inc.