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Studies on the relationship between the point mutation of ras oncogenes and the prognosis of patients with gastric cancer
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作者 房殿春 罗元辉 +1 位作者 鲁荣 刘为纹 《World Journal of Gastroenterology》 SCIE CAS CSCD 1997年第1期24+22-23,22-23,共3页
AIM To study the relationship between the point mutation of ras oncogenes and the prognosis of patients with gastric cancer.
关键词 Stomach neoplasms Genes ras Point mutation Polymerase chain reaction\ \ Polymorphism restriction fragment length Prognosis
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Eyes of diff ering colors in Alvinocaris longirostris from deep-sea chemosynthetic ecosystems: genetic and molecular evidence of its formation mechanism
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作者 Qian XIN Min HUI +1 位作者 Chaolun LI Zhongli SHA 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2021年第1期282-296,共15页
Coloration is an important phenotypic trait for multiple adaptive functions.It is interesting to fi nd white-eye(AW)and orange-eye(AO)phenotypes in the shrimp Alvinocaris longirostris inhabiting the deep-sea cold seep... Coloration is an important phenotypic trait for multiple adaptive functions.It is interesting to fi nd white-eye(AW)and orange-eye(AO)phenotypes in the shrimp Alvinocaris longirostris inhabiting the deep-sea cold seep and hydrothermal vent areas of the northwestern Pacifi c.By comparative transcriptome analyses,1491 diff erentially expressed genes(DEGs)were identified between AW and AO.Among them,many DEGs were associated with immunity,antioxidation,and detoxifi cation.Two signifi cant enzyme encoding genes,xanthine dehydrogenase,and tryptophan oxidase involved in pigment biosynthesis pathways were up-regulated in AW and AO,respectively,which might be related to the diff erences of white and orange eye phenotypes.Moreover,single nucleotide polymorphism(SNP)calling detected that genotypes of 28 SNP distributing in 14 unigenes were completely diff erent between AW and AO.Particularly,there were three and two non-synonymous mutations in immune genes crustin Pm5 and antimicrobial peptide,respectively.Results indicate that the diff erence in eye color is probably resulted from immune response to variable micro-environmental stressors encountered in the dispersal process of the shrimps,such as symbiotic microbes,pathogens,and toxic substances,and might be genetically fi xed at last.The suggested pathway preliminarily explained the formation mechanism of diff erent eye phenotypes in Alvinocaridid shrimps,providing a basis for further study on adaptive evolution of eyes in deep-sea chemosynthetic faunas. 展开更多
关键词 alvinocaridid shrimps cold seep and hydrothermal vent diff erentially expressed genes eye color single nucleotide polymorphism(SNP)mutation transcriptome
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An automated fluorescent single strand conformation polymorphism technique for high throughput mutation screening
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作者 翁建平 《Chinese Medical Journal》 SCIE CAS CSCD 2001年第11期27-30,104,共5页
Objective To develop a high throughput mutational detection method by mutiple fluorescence-labeled polymerase chain reaction(PCR)products.Methods A total of 27 known mutations including 22 substitutions,3 insertions(1... Objective To develop a high throughput mutational detection method by mutiple fluorescence-labeled polymerase chain reaction(PCR)products.Methods A total of 27 known mutations including 22 substitutions,3 insertions(1,2 and 7 bp)and 2 deletions(1 and 2 bp)in the hepatocyte nuclear factor(HNF)-4α,glucokinase and HNF-1α genes were tested.During nested PCR,amplified fragments were labeled with three fluorescent dyes.PCR products were visualized with an ABI-377 fluorescence sequencer using 5% glycerol or 10% sucrose in nondenaturing gel conditions.Results Twenty-five of 27 variants(93%)could be detected by combining 5% glycerol and 10% sucrosegel matrix conditions.Twenty-two of 27(82%)and 18 of 27(67%)variants were identified using 5%glycerol and 10% sucrose conditions,respectively.Conclusion This fluorescence-based PCR single strand conformation polymorphism technique represents a simple,non-hazardous,time-saving and sensitive method for high throughput mutation detection. 展开更多
关键词 genetics ·mutation · single strand conformation polymorphism ·electrophoresis · fluorescent label
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Genotypes and polymorphisms of mutant CCR5-△32,CCR2-64I and SDF1-3'A HIV-1 resistance alleles in indigenous Han Chinese 被引量:1
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作者 王福生 金磊 +8 位作者 雷周云 施红 洪卫国 徐东平 蒋建东 汪悦 张冰 刘明旭 李跃旗 《Chinese Medical Journal》 SCIE CAS CSCD 2001年第11期42-46,105-106,共7页
Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comp... Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comprised of 1251 subjects(915 men and 336 women)aged 15 -80 years and none was HIV-1 positive.Genotyping of allelic CCR5-△32,CCR2-641 and SDF1-3' A variants was performed using PCR or PCR/RFLP assay,and further confirmed by direct DNA sequencing.Results Our finding shows that the△32 deletion mutation in the CCR5 gene does occur in this population and can be inherited in a Mendelian fashion in indigenous Han Chinese at a very low frequency of 0.00119(n= 1254).The frequencies of mutant CCR2-641 and SDF1-3'A alleles were 0.20023(n = 1251)and 0.2873(n = 893),in this population,which are higher than those found in American Caucasians.Furthermore the polymorphisms of CCR2-641 and SDF1-3' A alleles in the Han Chinese population were different from those in American Caucasians.Statistical analysis showed that the genotype distribution of CCR5-△32,CCR2-641 and SDF1-3' A alleles was in equilibrium according to the Hardy-Weinberg equation.Conclusion The CCR5-△32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese.The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791)in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients. 展开更多
关键词 HIV-1· chemokine receptor 5 (CCR5) · polymorphism ·allelic frequency· mutation
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Systematic examination of DNA variants in the parkin gene in patients with Parkinson’s disease 被引量:2
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作者 王涛 梁直厚 +4 位作者 孙圣刚 曹学兵 彭海 刘红进 童萼塘 《Chinese Medical Journal》 SCIE CAS CSCD 2004年第10期1567-1569,共3页
关键词 Parkinson’s disease · sequence deletion · point mutation · Polymorphism
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von Willebrand disease in China
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作者 王迎春 李震宇 +1 位作者 顾建明 阮长耿 《Chinese Medical Journal》 SCIE CAS CSCD 2000年第8期5-8,共4页
关键词 von Willebrand factor von Willebrand factor gene von Willebrand disease point mutation polymorphism Chinese population
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