PMID- 8825634 OWN - NLM STAT- MEDLINE DCOM- 19970206 LR - 20190905 IS - 0888-7543 (Print) IS - 0888-7543 (Linking) VI - 30 IP - 3 DP - 1995 Dec 10 TI - Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. PG - 476-85 AB - Using fluorescence in situ hybridization (FISH), we have identified seven NF1-related loci, two separate loci on chromosome 2, at bands 2q21 and 2q33-q34, and one locus each on five other chromosomes at bands 14q11.2, 15q11.2, 18p11.2, 21q11.2-q21, and 22q11.2. Application of PCR using NF1 primer pairs and genomic DNA from somatic cell hybrids confirmed the above loci, identified additional loci on chromosomes 12 and 15, and showed that the various loci do not share homology beyond NF1 exon 27b. Sequenced PCR products representing segments corresponding to NF1 exons from these loci demonstrated greater than 95% sequence identity with the NF1 locus. We used sequence differences between bona fide NF1 and NF1-homologous loci to strategically design primer sets to specifically amplify 30 of 36 exons within the 5' end of the NF1 gene. These developments have facilitated mutation analysis at the NF1 locus using genomic DNA as template. FAU - Purandare, S M AU - Purandare SM AD - Department of Pediatrics, University of Utah, Salt Lake City 84112, USA. FAU - Huntsman Breidenbach, H AU - Huntsman Breidenbach H FAU - Li, Y AU - Li Y FAU - Zhu, X L AU - Zhu XL FAU - Sawada, S AU - Sawada S FAU - Neil, S M AU - Neil SM FAU - Brothman, A AU - Brothman A FAU - White, R AU - White R FAU - Cawthon, R AU - Cawthon R FAU - Viskochil, D AU - Viskochil D LA - eng SI - GENBANK/U35684 SI - GENBANK/U35685 SI - GENBANK/U35686 SI - GENBANK/U35687 SI - GENBANK/U35688 SI - GENBANK/U35689 SI - GENBANK/U35690 SI - GENBANK/U35691 SI - GENBANK/U35692 SI - GENBANK/U35693 SI - GENBANK/U35694 SI - GENBANK/U35695 SI - GENBANK/U35696 SI - GENBANK/U35697 SI - GENBANK/U35698 SI - GENBANK/U35699 GR - K08 NS01492/NS/NINDS NIH HHS/United States GR - R55CA57511-01/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, Non-P.H.S. PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Genomics JT - Genomics JID - 8800135 RN - 0 (DNA Primers) RN - 0 (Neurofibromin 1) RN - 0 (Proteins) SB - IM MH - Animals MH - Base Composition MH - Base Sequence MH - *Chromosome Mapping MH - Chromosomes, Human, Pair 15/*genetics MH - Cloning, Molecular MH - Cricetinae MH - DNA Primers MH - Humans MH - Hybrid Cells MH - In Situ Hybridization, Fluorescence MH - Mice MH - Molecular Sequence Data MH - Mutation MH - Neurofibromin 1 MH - Polymerase Chain Reaction MH - Proteins/*genetics EDAT- 1995/12/10 00:00 MHDA- 1995/12/10 00:01 CRDT- 1995/12/10 00:00 PHST- 1995/12/10 00:00 [pubmed] PHST- 1995/12/10 00:01 [medline] PHST- 1995/12/10 00:00 [entrez] AID - S0888754385712682 [pii] AID - 10.1006/geno.1995.1268 [doi] PST - ppublish SO - Genomics. 1995 Dec 10;30(3):476-85. doi: 10.1006/geno.1995.1268.