Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.
Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.
复制标题
范可尼贫血补充 D 组基因定位于染色体 3p25.3 上的 200 kb 区域。
DOI：
10.1086/302896
复制
发表时间：
2000
影响因子：
9.8
通讯作者：
Moses,RE
中科院分区：
文献类型：
--
作者：
Hejna,JA;Timmers,CD;Reifsteck,C;Bruun,DA;Lucas,LW;Jakobs,PM;Toth-Fejel,S;Unsworth,N;Clemens,SL;Garcia,DK;Naylor,SL;Thayer,MJ;Olson,SB;Grompe,M;Moses,RE
Fanconi贫血(FA)是一种罕见的常染色体隐性遗传病，表现为骨髓衰竭和癌症发病率升高。从患者身上提取的细胞表现出自发的染色体断裂和重排。使用DNA交联剂处理FA细胞后，这些断裂和重排大大增加。FA互补D组基因(FANCD)已通过微细胞介导的染色体转移定位于3p22-26。在这里，我们描述了使用非互补微细胞杂交来识别缩小FANCD临界区的小的重叠缺失。构建了1.2Mb的细菌人工染色体(BAC)/P1重叠群，远端以标记D3S3691为界，近端以ATP2B2基因为界。该重叠群至少包含36个基因，包括催产素受体(OXTR)、hOGG1、von Hippel-Lindau肿瘤抑制基因(VHL)和IRAK-2。hOGG1和IRAK-2都被排除为FANCD候选基因。常见重叠缺失的狭窄区域将∼关键区域限制在FANCD 200kb。该区域的三个候选基因是TIGR-A004X28、SGC34603和AA609512。
Fanconi anemia (FA) is a rare autosomal recessive disease manifested by bone-marrow failure and an elevated incidence of cancer. Cells taken from patients exhibit spontaneous chromosomal breaks and rearrangements. These breaks and rearrangements are greatly elevated by treatment of FA cells with the use of DNA cross-linking agents. The FA complementation group D gene (FANCD) has previously been localized to chromosome 3p22-26, by use of microcell-mediated chromosome transfer. Here we describe the use of noncomplemented microcell hybrids to identify small overlapping deletions that narrow theFANCDcritical region. A 1.2-Mb bacterial-artificial-chromosome (BAC)/P1 contig was constructed, bounded by the marker D3S3691 distally and by the geneATP2B2proximally. The contig contains at least 36 genes, including the oxytocin receptor (OXTR),hOGG1,the von Hippel-Lindau tumor-suppressor gene (VHL), andIRAK-2.BothhOGG1andIRAK-2were excluded as candidates forFANCD.BACs were then used as probes for FISH analyses, to map the extent of the deletions in four of the noncomplemented microcell hybrid cell lines. A narrow region of common overlapping deletions limits theFANCDcritical region to ∼200 kb. The three candidate genes in this region are TIGR-A004X28, SGC34603, and AA609512.