GENOMIC ORGANIZATION OF THE NEUROFIBROMATOSIS-1 GENE (NF1)

被引:191
作者
LI, Y
OCONNELL, P
BREIDENBACH, HH
CAWTHON, R
STEVENS, J
XU, GF
NEIL, S
ROBERTSON, M
WHITE, R
VISKOCHIL, D
机构
[1] UNIV UTAH, DEPT PEDIAT, DIV MED GENET, SALT LAKE CITY, UT 84112 USA
[2] UNIV UTAH, ECCLES INST HUMAN GENET, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA
关键词
D O I
10.1016/0888-7543(95)80104-T
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated, The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in the adjacent 350-kb NotI fragment. In our efforts to develop a comprehensive screen for NF1 mutations, we have isolated genomic DNA clones that together harbor the entire NF1 cDNA sequence. We have identified all intron-exon boundaries of the coding region and established that it is composed of 59 exons. Furthermore, we have defined the 3'-untranslated region (3'-UTR) of the NF1 gene; it spans approximately 3.5 kb of genomic DNA sequence and is continuous with the stop codon. Oligonucleotide primer pairs synthesized from exon-flanking DNA sequences were used in the polymerase chain reaction with cloned, chromosome 17-specific genomic DNA as template to amplify NF1 exons 1 through 27b and the exon containing the 3'-UTR separately. This information should be useful for implementing a comprehensive NF1 mutation screen using genomic DNA as template. (C) 1995 Academic Press, Inc.
引用
收藏
页码:9 / 18
页数:10
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