RESUMO
BACKGROUND & OBJECTIVE: BCR-ABL fusion gene is regarded as the molecular hallmark of chronic myelogenous leukemia (CML), and its expression is controlled by the BCR gene promoter. This study was designed to investigate the polymorphism of the promoter region of BCR gene, and its possible correlation with the disease. METHODS: A 1.13 kb fragment of BCR gene 5' promotor region was amplified and sequenced from 30 CML patients and 19 controls. Transcription factor binding sites and repeat sequences in this region were analyzed using softwares and online tools. RESULTS: Four novel single nucleotide polymorphisms (SNPs) and 3 bases different from the reference sequence were detected in the region studied. Among these 2 novel SNPs and 1 different base were located in or near several bases of binding sites. The gene frequencies of the novel SNPs had no significant difference between CML and control people. CONCLUSION: Sequence polymorphisms were found in the 5' promotor region of BCR gene, most of them being SNPs. No relativity can be validated between the SNPs and the disease. But it appears that some SNPs might have the probability of bringing influence to the transcription and expression of the gene.
Assuntos
Proteínas de Fusão bcr-abl/genética , Genes abl/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Sequência de Bases , Sítios de Ligação , DNA de Neoplasias/genética , Frequência do Gene , Humanos , Dados de Sequência Molecular , Transcrição GênicaRESUMO
To clarify the association between HLA-DPB1 alleles and chronic myelogenous leukemia (CML) in South Chinese, the allelic types of HLA-DPB1 were detected by sequence based typing (SBT) in 86 patients with CML and 82 healthy individuals from Southern China. The results showed that the frequencies of HLA-DPB1 * 1301 and DPB1 * 20011 were higher in patients with CML in comparison with those of healthy individuals. It is concluded that positive association may exist between certain HLA-DPB1 alleles and CML.
Assuntos
Antígenos HLA-DP/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Alelos , Distribuição de Qui-Quadrado , China , Frequência do Gene , Genótipo , Cadeias beta de HLA-DP , HumanosRESUMO
During the Evolution, effected by select pressure or nature mutation, the compositions of bacteria genomes is various. And many experiences prove that the genes between leading strand and lagging strand is distinctly in copy, transcription and repair. Some scholars presume that the bases distribution is difference between the two strand, to verify the guess, we using the technology of bioinformatics, compare the base usage between the DNA double strand in 17 species bacteria. The result show: 1. there is same bases usage frequency in coding sequence between leading strand and lagging strand 2. There also same bases usage frequency in first codon, second codon and third codon. It suggest that there is a equilibrium between the two strand by the effect of select pressure and nature mutation.
Assuntos
Bactérias/genética , Códon/genética , DNA Bacteriano/genética , Bases de Dados de Ácidos Nucleicos , Evolução Molecular , Genes Bacterianos/genética , Genoma Bacteriano , Mutação , Nucleotídeos/genética , Seleção GenéticaRESUMO
Amphioxus, a cephalochordate, is the closest living relative to the vertebrates. In order to investigate the molecular mechanisms of the early embryogenesis of amphioxus, we constructed a neurula embryo cDNA library of Chinese amphioxus (Branchiostoma belcheri tsingtauense) and generated 5235 expressed sequenced tags in the present study. The initial ESTs consisted of 638 clusters and 1855 singletons, which revealed approximately 2493 unique genes in the data set. Of these sequences, 35.52% ESTs matched to known genes, 12.76% matched to other ESTs, and 51.71% had no match to any known sequences in GenBank. Interestingly we found homologous genes related to neural development and human disease. Bioinformatic analysis showed the direct evidence that the gene homologue found only in vertebrates in previous studies also exists in the amphioxus genome. This study provides a preliminary view of the gene information involved in the development of neurula embryos of Chinese amphioxus and helps our understanding of vertebrate evolution at gene level.
Assuntos
Cordados não Vertebrados/genética , Etiquetas de Sequências Expressas , Animais , Biologia Computacional , DNA Complementar/metabolismo , Evolução Molecular , Biblioteca Gênica , RNA Mensageiro/metabolismo , SoftwareRESUMO
OBJECTIVE: To analyze the hereditary susceptibility in patients with endometriosis by way of genotyping of HLA-DPB1 alleles. METHODS: The allelic types of HLA-DPB1 were detected by sequence-based typing (SBT) in 38 patients with endometriosis and 36 healthy women as the control. RESULT: Significant differences in the frequency of HLA-DRB1 allele was not observed between endometriotic patients and normal subjects. CONCLUSION: HLA-DPB1 allele may not be related to endometriosis.
Assuntos
Endometriose/genética , Antígenos HLA-DP/genética , Adulto , Alelos , China , Endometriose/patologia , Feminino , Frequência do Gene , Cadeias beta de HLA-DP , Humanos , Pessoa de Meia-IdadeRESUMO
The HLA-DRB1 gene polymorphism in Lahu ethnic of Yunnan, China was the first time investigated using high resolution PCR-SBT method, which is based on sequences of HLA-DRB1 Intron 1 and Intron 2 and with our improvement. From 55 individuals of Lahu ethnic 16 DRB1 alleles were detected. The three most common alleles were HLA-DRB1 * 12021(30.909%), 09012(15.455%), 15011(13.636%), and they covered 60% of the total alleles detected from Lahu ethnic.HLA-DRB1 * 1413, * 11081, * 1312, * 1418, * 1504 were the first time detected in the Chinese, and were very rare in worldwide ethnic groups. With comparison of HLA-DRB1 gene frequencies between various ethnic groups we analyzed the characteristics of HLA-DRB1 gene distribution in worldwide populations,and constructed the phylogenetic tree by Neighbor-joining method and Nei measure of genetic distance. The result showed Lahu ethnic obviously belong to the Chinese South ethnic groups and can't trace its origin from northern groups with the HLA-DRB1 genetic data. The preliminary explanations about the contradiction were given in this paper.
