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牟奕 单祥年 严明 刘宁生 鲁晓萱 邢光前 卜行宽 杨焕明MOU Yi SHAN Xiang-nian YAN Ming LIU Ning-sheng LU Xiao-xuan XING Guang-qian PU Xing-kuan YANG Huan-ming 《遗传》2001,23(5):401-724
通过分析本家系mtDNA序列,探讨淮阴一非综合征耳聋大家系患病的分子遗传学机制.采用聚合酶链反应(PCR)扩增mtDNA与非综合征耳聋相关位点nt1555、nt7445的区域和人类种群研究的D-loop区、PCR-异源双链分析、PCR-RFLP、PCR产物克隆序列测定等技术对该家系进行了系统的研究.发现该家系中全部母系亲属有mtDNAA1555G突变,而家系中非母系个体、对照组(100例正常个体)的mtDNA1555位点均为A.该家系mtDNA7445位点无突变;该家系属于II型线粒体;发现家系D-loop区存在未见报道的碱基插入.提示mtDNAA1555G位点突变可能是导致该家系患者致聋的主要因素之一.遗传背景可能对家系疾病的表型存在一定程度的影响。
Abstract:We find an extensive nonsyndromic sensorineural deafness family in Huaiyin,and investigate the possible molecular genetic mechanism of matrilineal nonsyndromic sensorineural deafness.We use PCR,combined with PCR-heteroduplex analysis,PCR-RFLP and sequencing techniques to examine part of 12S rRNA,tRNAser(UCN),and D-loop region of this pedigree.1)We found an A to G transition at position 1555(A1555G) of the mitochondrial 12S rRNA from all the patients and four matrilineal.2)An new nucleotide insertion was indentified in D-Loop region.3)According to the polymorphism of D-loop,this pedigree belong to mitochondrial type II.The study showed that the A1555G mutation may be one of major factors in progressive inherited deafness of this family and genetic background should be investigated in the future. 相似文献
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氯化钇和氯化镨引起的人淋巴细胞DNA分子损伤的研究 总被引:12,自引:2,他引:10
用单细胞凝胶电泳法检测了稀土化合物氯化钇和氯化镨对人外周血淋巴细胞的DNA损伤效应。结果表明,与对照相比,3种不同浓度的氯化钇和氯化镨均可引起淋巴细胞DNA受损后DNA迁移率的显著升高,受损伤细胞的百分率与对照差异明显,提示氯化钇和氯化镨具有一定的遗传毒性。 相似文献
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大肠癌中p53基因突变的研究 总被引:2,自引:0,他引:2
应用聚合酶链反应(PCR)──单链构型多态性(SSCP)结合银染法对14例大肠癌p53基因的第4、第5─6和第7外显子进行了点突变的研究,结果共检测出6例点突变,而且发现各外显子的突变频率存在差异。另外,利用购自ATCC的两个探针 (p53cDNA探针和pYNZ22探针)对大肠癌中p53基因的杂合性失去进行了研究,在14例大肠癌中共检出6例杂合性丢失。将点突变检测结果同杂合性丢失结果进行比较分析, 并着重探讨了大肠癌中p53基因失活导致肿瘤的作用方式。
Abstract:The exons 4-7 of p53 gene were examined in 14 colorectal Cancer patients by using PCR-SSCP-silver staining method.The results showed 6 cases of point mutation and the mutation frequencies of exons were different from each other.p53 cDNA and pYNZ22 VNTR were used as probes to examine LOH(Loss of heterozygosity)of 14 colorectal cancers.6 cases with LOH were found.The results of present research suggest that mutation and LOH of p53 gene are critical events in the progress and development of Cancer.There were different kinds of inactivation model of p53 gene in the process of development of cancer and transformation of cells. 相似文献
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我国黄牛属(Bos)五个种的染色体比较研究 总被引:11,自引:0,他引:11
本文应用外周血淋巴细胞短期培养方法,研究了我国黄牛属中五种牛的染色体组型,结果:黄牛(Bos taurus)2n=60;牦牛(Bos grunniens)2n=60;高峰牛(Bos indicus)2n=60;大额牛(Bos frontalis)2n=58;云南野牛(Bos gaurus readei)2n=56。并从染色体数目和形态上比较了它们之间的差异和类同。最后,从细胞遗传学角度讨论了这几种牛彼此之间杂交育种的可能性,为畜牧业上培养新的优良牛种提供了细胞遗传学的依据。 相似文献
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薛妹朗 朱玉芳 张锡然 杜开河 聂刘旺 单祥年XUI Mei-Lang ZHU Yu-Fang ZHANG Xi-Ran DU Kai-He NIE Liu-Wang SHAN Xiang-Nian 《遗传》1999,21(1):6-8
本文以微铺展技术制备中华鳖精母细胞联会复合体标本,经硝酸银染色后电镜观察,分析了SC组型。并与有丝分裂染色体组型相比较,发现二者有着良好的一致性,而且微小染色体的SC结构和着丝粒清晰,未发现形态上有分化的性染色体。中华鳖SC的研究为其细胞遗传学及性别决定机制提供了重要的依据。
Abstract Synaptonemal Complexes (SC) in Trionyx sinensis spermatocytes prepared with micro-spreading technique and silver staining was analyzed by electron microscopy. The meiotic SC karyotype was constructed from 10 cells and compared with mitotic chromosome karyotype. There is a good agreement between them. The structure and kinetochores of micro-chromosomes are very distinctive on each SC. There does not exist differential sex chromosome. 相似文献
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张坚宣)史庆华)潘淑娟)张锡然)单祥年)余龙)ZHANG Jian-Xuan)SHI Qing-Hua)PAN Shu-Juan)ZHANG Xi-Ran)SHAN Xiang-Nian)YU Long) 《遗传》1999,21(1):11-15
21三体是人类最常见的先天性疾病,约95%患儿的超数21号染色体来源于母亲,且随母龄增加患儿出生率也随之增加。本文首次运用胞质分裂阻滞法(CB法)对不同年龄女性体细胞进行荧光原位杂交,对其21号染色体的分离情况进行分析。结果表明,随年龄的增加,女性体细胞中21号染色体不分离也随之增加,但21号染色体丢失无年龄效应, 且21号染色体不分离频率远高于其丢失。该结果表明,女性体细胞中21号染色体不分离与生殖细胞同样存在年龄效应。
Abstract Trisomy 21 is the most common genetic desease in human. More than 90% is derived from mother. With the advancing of mother's age, the frequency of trisomy 21 is increasing. We detected the relation between chromosome 21 missegregation and age in cytokinesis-blocked female lymphocytes by in situ hybridization with chromosome 21 specfic probe. We have found that the age effect also exists in female somatic cells as in gamets. 相似文献
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大仓鼠的核型与B染色体研究 总被引:1,自引:0,他引:1
采用骨髓细胞染色体制片法,对分布于山东济南、泰山、东北长白山和陕西西安的大仓鼠的染色体组型、G-带、C-带和银染核型进行了分析研究。济南、西安和长白山的标本的二倍体数目和核型相似,2n=28,22t+4m+XY(st,m)。泰山标本的二倍体数目为2n=28~29,即在675%的中期相中多出了一条形态最小的端着丝粒染色体,这条染色体为B染色体,可能起源于X染色体。泰山标本的A染色体组与上述3地标本相同。4地标本的G-带、C-带和银染核型相似。除B染色体外,每个端着丝粒染色体都具有着丝粒异染色质,AgNORs较恒定地出现在Nos2,4,8,9,13染色体上。也就是说大仓鼠的B染色体为C-带阴性,不携带核仁组织者。这种B染色体C-带阴性的特征在赤狐、黑家鼠和大林姬鼠朝鲜亚种中亦有报道。 相似文献