PMC:2812425 / 7427-10779
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2812425","sourcedb":"PMC","sourceid":"2812425","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2812425","text":"Haplotype and LOD score analyses excluded GINGF1 (Figs. 1 and 4 and Table 1) and GINGF2 (data not shown) in this adHGF family. Linkage of the disease to GINGF3 was demonstrated with a maximal two-point LOD score of 3.45 with marker D2S171 (θ = 0; Table 1) and a maximal multipoint LOD score of 3.91 with marker D2S390 (θ = 0; Fig. 4). Recombinations defined markers D2S220 and D2S352 as boundaries of the linked interval (Fig. 1). The candidate region defined in the presented family overlaps with the 11.42-cM, 13.04-Mb GINGF3 interval flanked by marker loci D2S2221 and D2S1788, originally defined in one Chinese family [6]. According to the current NCBI draft sequence of the human genome, build 36.3, the original and the refined GINGF3 candidate region contain 131 and 112 known and hypothetical genes. Prioritarization of candidate genes for mutation analysis considers expression in gingival or connective tissue and a putative function of the gene product in cell cycle control or extracellular matrix composition. Three interactive, web-based implementations, SUSPECTS (http://www.genetics.med.ed.ac.uk/suspects/), GeneWanderer (http://compbio.charite.de/genewanderer/GeneWanderer), and GeneDistiller (http://www.genedisteller.org) [11] were queried in addition to a manual approach to identify the disease gene based on expression and functional data contained in the NCBI database (http://www.ncbi.nlm.nih.gov/sites/gene). However, sequencing two candidate genes, ALK, encoding a receptor protein–tyrosine kinase and C2orf18 encoding an adenine nucleotide translocase 2 binding protein in cDNA from fibroblasts did not reveal a mutation in a patient from the presented family. A whole-genome analysis of copy number variation in the same patient detected neither aberrations at the GINGF3 locus nor elsewhere.\nFig. 4 Multipoint LOD score. The order of analyzed markers on chromosome 2p is shown on the X-axis, and distances are given in centiMorgan. The Y-axis refers to the LOD score\nTable 1 Two-point linkage analysis between the HGF locus and chromosome 2p markers\nMarker Genetic LOD score at θ Z max θ max\nDistance (cM) 0.00 0.01 0.05 0.10 0.20 0.30 0.40\nD2S320 38.33 −∞ 1.04 1.53 1.58 1.44 1.22 1.01 1.58 0.09\nD2S2233 39.93 −∞ 0.78 1.29 1.36 1.24 1.06 0.87 1.36 0.10\nD2S2342 40.47 0.95 0.93 0.84 0.74 0.56 0.41 0.29 0.95 0\nD2S220 42.65 −0.69 1.26 1.76 1.82 1.67 1.44 1.22 1.82 0.09\nD2S2201a 41.57 1.83 1.79 1.64 1.45 1.13 0.87 0.66 1.83 0\nD2S2221 44.09 2.19 2.15 1.99 1.80 1.46 1.16 0.92 2.19 0\nD2S171 45.30 3.45 3.39 3.16 2.89 2.40 1.97 1.60 3.45 0\nD2S144 45.30 3.42 3.36 3.13 2.86 2.37 1.95 1.59 3.42 0\nD2S365 47.97 0.95 0.93 0.85 0.75 0.58 0.44 0.33 0.95 0\nD2S390 48.50 3.31 3.25 3.03 2.77 2.30 1.89 1.54 3.31 0\nD2S352 50.65 −∞ −1.51 −0.29 0.11 0.33 0.35 0.32 0.36 0.27\nD2S2347 50.65 −∞ −0.34 0.24 0.40 0.45 0.42 0.37 0.45 0.19\nD2S367 54.96 0.95 0.93 0.88 0.82 0.69 0.59 0.49 0.95 0\nD2S1788 55.51 −∞ −0.92 0.27 0.62 0.76 0.71 0.61 0.76 0.20\nD2S2163 59.36 −∞ −0.61 −0.02 0.15 0.23 0.22 0.19 0.23 0.23\nD2S177 59.36 −∞ −4.01 −2.05 −1.32 −0.71 −0.43 −0.28 −0.28 0.40\nD2S2238 60.45 −∞ −2.49 −1.20 −0.73 −0.36 −0.21 −0.13 −0.13 0.40\naThe physical map of chromosome 2 (NCBI draft sequence of the human genome, build 36.3) indicates that D2S2201 localizes centromeric to D2S220, contrasting with the Marshfield genetic map of chromosome 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