Expression and location of UBAP1 protein associated with nasopharyngeal carcinoma / 中南大学学报(医学版)

OBJECTIVE@#To analyze the expression and location of coding protein of UBAP1 gene and to understand the relationship between the expression pattern of the protein and cell carcinogenesis.@*METHODS@#Bioinformatics was used to analyze the protein character to provide an available clue of subsequent research. The codon frame cDNA was amplified by PCR, and subcloned into enhance green fluorescence protein (EGFP) of pEGFP-C2. The recombinant plasmid was transfected into HNE1 cells. The expression of coding protein was observed by fluorescence microscopy.@*RESULTS@#The expressed GFP-fusion protein generated striking green fluorescence in the cytoplasm in HNE1 cells. EGFP/UBAP1 was expressed and existed mainly in the nuclear, especially accumulated on the nuclear envelope.@*CONCLUSION@#The expression difference in HNE1 might be related to the carcinogenesis of NPC.

Polymorphism of two novel SNPs, which locate on chromosome 9p21-22, in Han Chinese of Hunan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To search novel SNPs in exons and regulatory regions of CDKN2A and two novel putative tumor suppressor genes NGX6 and UBAP1, which all reside on chromosome 9p21-22.</p><p><b>METHODS</b>The exons and regulatory regions of those genes were amplified and sequenced in 96 subjects.</p><p><b>RESULTS</b>Two novel SNPs were found, one resides on the sixth exon of UBAP1 gene and the other on the fourth exon of CDKN2A gene. Two novel SNPs were submitted to the dbSNP database, and their access ID are rs3135929 and rs3088440. The polymorphic information contents of them are 0.102 and 0.213 respectively. There is linkage equilibrium between them, and the polymorphic information content of their haplotype is 0.302, higher than any of them individually.</p><p><b>CONCLUSION</b>The polymorphic information content can be improved by using haplotype analysis of several SNPs.</p>

Studies on the relationship between D6S1581, a high frequency allele imbalance locus, and genetic susceptibility to nasopharyngeal carcinoma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship of nasopharyngeal carcinoma (NPC) with the high frequency allele imbalance locus D6S1581, and the NPC associated gene FBXO30 which is located near D6S1581.</p><p><b>METHODS</b>Genescan was used to genotype D6S1581 of 12 NPC pedigrees, 85 sporadic NPC patients and 181 normal volunteers. Then parametric/nonparametric linkage analysis and association analysis were performed.</p><p><b>RESULTS</b>D6S1581 was linked with NPC, a Lod score of 2.611436 (P=0.00245) was obtained, and a significant difference in allele frequency was observed between familial NPC and control (P<0.005).</p><p><b>CONCLUSION</b>These results suggest that D6S1581 is highly associated with NPC, and there may be one or more NPC associated genes near D6S1581, including FBXO30.</p>

Genetic polymorphism of 8 STR loci on short arm of chromosome 3 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To get the genotype and allele frequency distributions of 8 short tandem repeat (STR) loci on chromosome 3p (D3S1297, D3S1489, D3S1266, D3S1568, D3S1289, D3S1300, D3S1285 and D3S3681) in Chinese Han population in Hunan area.</p><p><b>METHODS</b>Blood samples were collected from the random Han individuals in Hunan and the whole genomic DNA was extracted. STR loci were amplified by multiplex-PCR technique and genotyped by ABI 377 sequencer.</p><p><b>RESULTS</b>Ninety-one alleles were detected, with frequencies ranging from 0.002 to 0.431, and these alleles constituted 312 genotypes. All the 8 loci met Hardy-Weinberg equilibrium. The statistical analysis of 8 STR loci showed the heterozygosity (H) >or= 0.729, the discrimination power (DP) >or= 0.725, the probabilities of paternity exclusion (PPE) >or= 0.596, and the polymorphic information content (PIC >or= 0.682). The result indicated that there was a significant difference between Han ethnic group and the white and the black.</p><p><b>CONCLUSION</b>These results could serve as valuable data to enrich the Chinese genetic database and play an important role in Chinese population genetic and forensic medical application.</p>