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Is KPNB3 Locus Associated With Schizophrenia? 被引量:1
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作者 LI-BO LIU YING HU +8 位作者 GUI-ZHI JU LIN XIE SHU-ZHENG LIU JIE-PING SHI YA-QIN YU QI XU Yu FAN YAN SHEN JUN WEI 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2007年第1期52-55,共4页
Objective To reconfirm the association of KPNB3 with schizophrenia in Chinese population. Methods Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 trios consisting of fathers, mothers, and affected... Objective To reconfirm the association of KPNB3 with schizophrenia in Chinese population. Methods Two single nucleotide polymorphisms (SNPs), rs2588014 and rs626716 trios consisting of fathers, mothers, and affected offsprings at the KPNB3 locus, were genotyped in 304 Chinese Han family with schizophrenia. These 2 SNPs were detected by PCR-based restriction fragment length polymorphism (RFLP) analysis. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was used to perform transmission disequilibrium test (TDT), haplotype analysis, and pair-wise measure of linkage disequilibrium (LD) between these 2 SNPs. Results The genotypic distributions of both rs2588014 and rs626716 were in the Hardy-Weinberg equilibrium (P〉0.05). The TDT revealed allelic association with rs626716 (χ^2 =9.31, P=0.0023) but not with rs2588014 (χ^2 =3.44, P=0.064). The global P-value was 0.0099 for 100 permutations. The haplotype analysis also showed a disease association (χ^2 =25.97, df=3, P=0.0000097). Conclusion The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population. 展开更多
关键词 chromosome 13 KPNB3 Single nucleotide polymorphisms (SNPs) SCHIZOPHRENIA
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High frequency loss of heterozygosity on the long arms of chromosomes 13 and 14 in nasopharyngeal carcinoma in Southern China 被引量:1
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作者 邵建永 李宇红 +8 位作者 吴秋良 梁小曼 余杏娟 黄丽惜 侯景辉 黄晓明 曾益新 Ingemar Ernberg Li-Fu HU 《Chinese Medical Journal》 SCIE CAS CSCD 2002年第4期571-575,共5页
OBJECTIVE: To investigate the loss of heterozygosity (LOH) on chromosomal arms 13q and 14q in nasopharyngeal carcinoma (NPC) using 21 microsatellite polymorphic markers and to study whether there is a correlation betw... OBJECTIVE: To investigate the loss of heterozygosity (LOH) on chromosomal arms 13q and 14q in nasopharyngeal carcinoma (NPC) using 21 microsatellite polymorphic markers and to study whether there is a correlation between LOH and clinicopathologic parameters and/or Epstein-Barr virus (EBV) infection in NPC. METHODS: Sixty cases of NPC were studied using polymerase chain reaction based microsatellite analysis with genescan and genotyping techniques. RESULTS: LOH was detected on 13q in 78% of NPC tumors, high frequency LOH loci (more than 30%) clustered to 13q12.3-q14.3 and 13q32. On chromosome 14q, LOH was detected in 80% of NPC tumors; high frequency LOH loci clustered to 14q11-q13, 14q21-q24 and 14q32. High frequency LOH at 13q31-q32 correlated with a lower level of EBV infection; LOH on chromosome 14q was closely associated with poor differentiation of NPC tumor cells. CONCLUSION: Our results suggest that in NPC, LOH on chromosome 13q and 14q are common genetic events, and putative tumor suppressor genes (TSG) residing in these regions may be involved in tumorigenesis. 展开更多
关键词 Loss of Heterozygosity Adult Aged chromosomes Human Pair 13 chromosomes Human Pair 14 DNA Neoplasm Female Gene Frequency Humans Male Microsatellite Repeats Middle Aged Nasopharyngeal Neoplasms Research Support Non-U.S. Gov't Statistics
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miRNA deregulation in multiple myeloma 被引量:5
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作者 BI Chong Lei CHNG Wee Joo 《Chinese Medical Journal》 SCIE CAS CSCD 2011年第19期3164-3169,共6页
Multiple myeloma (MM) is an incurable plasma cell malignancy and is the second most common hematological cancer. It is characterized by complex, recurrent genetic and epigenetic abnormalities. Recent publications ha... Multiple myeloma (MM) is an incurable plasma cell malignancy and is the second most common hematological cancer. It is characterized by complex, recurrent genetic and epigenetic abnormalities. Recent publications have linked miRNAs, a novel class of gene regulators to cancer including MM. miRNAs are about 20 nucleotide, single strand, non-coding RNAs that repress gene expression by mRNA degradation or translational repression. Aberrant miRNA expression profiles have been described in MM, and their functional roles in MM pathogenesis are being increasingly recognized. This review summarizes the current literature on the role of miRNAs in MM and offers perspectives on future research and utilization of miRNAs in MM management. 展开更多
关键词 MIRNA multiple myeloma PATHOGENESIS GENETICS chromosome 13
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