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Y染色体单倍群与西南地区男性生精障碍的相关性 被引量:4
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作者 冉静 韩婷婷 +6 位作者 丁显平 魏霞 张丽媛 张玉平 李天俊 聂双双 陈林 《遗传》 CAS CSCD 北大核心 2013年第1期73-78,共6页
男性不育中,原发无精、少精是最为重要的因素之一,核型异常和无精子症因子(Azoospermia factor,AZF)微缺失能解释部分原发无精、少精的原因,然而还有许多致病因素尚不清楚。Y染色体作为男性特有的染色体,与男性生殖系统的正常功能密切... 男性不育中,原发无精、少精是最为重要的因素之一,核型异常和无精子症因子(Azoospermia factor,AZF)微缺失能解释部分原发无精、少精的原因,然而还有许多致病因素尚不清楚。Y染色体作为男性特有的染色体,与男性生殖系统的正常功能密切相关。文章主要对Y染色体单倍群这一分子遗传背景与男性原发无精、严重少精症之间是否存在相关性进行探讨,为进一步探索原发无精、严重少精症的遗传学致病原因提供依据和可行的方向。采集265名生精障碍患者(原发无精症患者193名,原发严重少精症患者72名)以及193名正常男性样本的外周血,进行核型分析和AZF缺失分析,以排除有此两类异常的样本。将经过筛选的样本进行Y染色体单倍群分析,并对其单倍群分布情况进行统计分析。分析显示,生精障碍组和对照组分别在D1*、F*、K*、N1*和O3*上有显著性差异(P=0.032,0.022,0.009,0.009,0.017,<0.05)。Y染色体单倍群,这一Y染色体遗传背景与男性原发生精障碍的发生有相关性。 展开更多
关键词 Y染色体单倍 原发生精障碍 无精子症因子(AZF)
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yi草的核型及染色体群的研究初报
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作者 周碧华 彭国宏 《牧草与饲料》 1989年第2期26-29,共4页
关键词 yi草 核型 染色 牧草 育种
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籼粳型水稻品种间远缘杂交诱导的3染色体群分离畸形的鉴定
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作者 S.Matsushita 向平 《国外作物育种》 2004年第3期2-3,共2页
分离畸形是指在F2群体及其后代中单个染色体位点基因的分离偏离盂德尔分离比。基因分离畸形是由遗传因子.如杀灭雌或雄配子的杂种不育基因以及配子体选择基因等引起的。影响特殊基因型合子活力的基因也能引起分离畸形。已经在远缘杂交... 分离畸形是指在F2群体及其后代中单个染色体位点基因的分离偏离盂德尔分离比。基因分离畸形是由遗传因子.如杀灭雌或雄配子的杂种不育基因以及配子体选择基因等引起的。影响特殊基因型合子活力的基因也能引起分离畸形。已经在远缘杂交后代,如种间杂种和亚种间杂种中观察到了分离畸形。 展开更多
关键词 籼粳型 水稻品种 远缘杂交 基因诱导 染色 分离畸形 鉴定技术
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单圈图和双圈图的群色数 被引量:1
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作者 杨星星 《宿州学院学报》 2012年第5期6-7,共2页
若图G=(V,E),给定方向为D,A表示一个非平凡的阿贝尔群,F(G,A)表示映射f:E(G)→A的集合。若对任意f∈F(G,A)存在映射c:V(G)→A,使得G中的每一条有向边e=uυ∈E(G)(方向是u→υ)满足c(u)-c(v)≠f(e),这时说图G是A-可染的。使得图G在方向D... 若图G=(V,E),给定方向为D,A表示一个非平凡的阿贝尔群,F(G,A)表示映射f:E(G)→A的集合。若对任意f∈F(G,A)存在映射c:V(G)→A,使得G中的每一条有向边e=uυ∈E(G)(方向是u→υ)满足c(u)-c(v)≠f(e),这时说图G是A-可染的。使得图G在方向D下是A-可染的,A的最小阶数为图G的群色数,记为χg(G)。在分析单圈图和双圈图特性的基础上,讨论了它们的群色数。对于单圈图、双圈图可得出其群色数都是3。 展开更多
关键词 群染色 色数 双圈图
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伪-海临图的群色数
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作者 杨星星 林永 《赤峰学院学报(自然科学版)》 2016年第17期4-5,共2页
若图G=(V,E),给定方向为D,A表示一个非平凡的且单位元为0的阿贝尔群,F(G,A)表示映射f:E(G)→A的集合.若对任意f∈F(G,A)存在映射c:V(G)→A,使得G中的每一条有向边e=uv∈E(G)(方向是u→v)满足c(u)-c(v)≠f(e),这时说图G是A-可染的.使得图... 若图G=(V,E),给定方向为D,A表示一个非平凡的且单位元为0的阿贝尔群,F(G,A)表示映射f:E(G)→A的集合.若对任意f∈F(G,A)存在映射c:V(G)→A,使得G中的每一条有向边e=uv∈E(G)(方向是u→v)满足c(u)-c(v)≠f(e),这时说图G是A-可染的.使得图G在方向D下是A-可染的,A的最小阶数为图G的群色数,记为χg(G).本文给出了伪-海临图的群色数不超过4. 展开更多
关键词 群染色 色数 伪-海临图
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EA-YPredictor:基于Y-STR数据的家系特异性单倍群归属判别分析软件 被引量:4
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作者 殷才湧 孙辉 +2 位作者 周怀谷 金力 李士林 《刑事技术》 2020年第2期117-124,共8页
目的Y染色体为男性所特有,其遗传标记蕴含着丰富的生物地理信息,故可溯源家系,在嫌疑人排查和追踪中发挥作用。Y-STR突变率较高,而Y-SNP突变率极低,几乎不会发生回复突变,所以后代男性群体携带祖先特有的Y-SNP。本研究期望通过现在我国... 目的Y染色体为男性所特有,其遗传标记蕴含着丰富的生物地理信息,故可溯源家系,在嫌疑人排查和追踪中发挥作用。Y-STR突变率较高,而Y-SNP突变率极低,几乎不会发生回复突变,所以后代男性群体携带祖先特有的Y-SNP。本研究期望通过现在我国Y库建设中通用的17个Y-STR的单倍型数据预测Y-SNP单倍群细支。方法基于前期观察,选取千人基因组计划III期中的513例东亚人群(中国及周边区域)作为基础数据集,在Java平台和Microsoft Excel软件框架下,以遗传距离计算和Y染色体进化树构建手段相联合研发Y-STR数据的家系特异性单倍群归属判别分析软件:EA-YPredictor。结果本研究揭示了15个单倍群大支下的核心单倍型。通过随机选取70个公开数据库样本,EA-YPredictor软件预测准确性达到92.8%(95%置信区间:[84.1%,97.6%])。结论在Y-SNP复合扩增检测尚无定论的情况下,本软件可基于二代测序样本对Y-STR数据库样本进行单倍群细支的准确预测,能适用于辅助家系单倍群判断。随着测序技术的不断换代和优化,更多高通量的Y-STR和Y-SNP数据补充将会使本软件进一步优化。此外,本软件对于Y数据库中Y-SNP遗传标记的筛查建库有一定指向作用。 展开更多
关键词 法医遗传学 Y染色体单倍预测 Y-STR Y-SNP 东亚男性人
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中国六个群体Y染色体单核苷酸多态位点的遗传多态性研究 被引量:2
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作者 张咏莉 于敏 +6 位作者 陈峰 薛雅丽 马琳琳 黄晓义 张贵寅 李璞 傅松滨 《中华医学遗传学杂志》 CAS CSCD 2004年第2期138-143,共6页
目的 分析中国 6个代表性群体中 Y染色体非重组区 15个单核苷酸多态位点 (single nu-cleotide polymorphism,SNP)的遗传多态性。方法 采用特异性等位基因聚合酶链反应 (allelic specificPCR,ASPCR)扩增技术和琼脂糖凝胶电泳、聚丙烯... 目的 分析中国 6个代表性群体中 Y染色体非重组区 15个单核苷酸多态位点 (single nu-cleotide polymorphism,SNP)的遗传多态性。方法 采用特异性等位基因聚合酶链反应 (allelic specificPCR,ASPCR)扩增技术和琼脂糖凝胶电泳、聚丙烯酰胺凝胶电泳检测方法 ,对来自中国南方、东北、西北 3个地区的福建汉族、四川汉族、蒙古族、赫哲族、锡伯族、回族 6个代表性群体 343份男性健康无血缘关系血样本的遗传多态性进行分析。结果 共定义出 30种 Y染色体单体群 ,其中 H15、H16、H18是所有 6个群体中共享的单体群。虽然赫哲族、蒙古族、锡伯族之间以及福建汉族、四川汉族、回族之间遗传异质性水平相似 ,但单体群的配对差异是显著的。遗传分子变异分析和单体群分布的主成分分析结果显示 ,赫哲族、蒙古族、锡伯族以及福建汉族、四川汉族、回族两大组群体之间等位基因多样性显著不同。结论 东北 /南方群体之间的遗传差异明显强于东北 /西北和南方 /西北 ,中国 6个群体呈现东北 /西北 /南方的地域性遗传关系。研究结果进一步证实了现代中国人群体遗传结构的复杂性 ,所积累的遗传数据对于构建现代人类基因库以及精确追溯中国人群的历史迁移足迹都具有重要意义。 展开更多
关键词 单核苷酸多态性 Y染色体单体 等位基因多样性 分子变异分析
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遗传学对人科谱系的重构 被引量:3
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作者 李辉 《科学》 北大核心 2013年第2期7-12,4+2,共6页
近来基于基因组学的遗传学研究成果颠覆了以往的古生物学和生物分类法。甚至动摇了传统的人类阶段进化论。我们将根据最新的遗传学研究成果,从猿类到现代人种来逐步重构人类的进化历程。
关键词 人类起源 基因组 谱系分析 人种 Y染色体单倍 人科谱系
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Y染色体单倍群与精子发生相关性
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作者 刘玉林 朱晓斌 李铮 《生殖与避孕》 CAS CSCD 北大核心 2009年第8期554-557,共4页
Y染色体上存在众多精子发生的相关基因。在Y染色体进化过程中形成可稳定遗传的碱基突变位点:SNP位点。根据Y染色体SNP位点不同,把全球人群分为153个单倍群(haplogroup)。大量研究显示,Y染色体无精子因子(azoospermia factor,AZF)区基因... Y染色体上存在众多精子发生的相关基因。在Y染色体进化过程中形成可稳定遗传的碱基突变位点:SNP位点。根据Y染色体SNP位点不同,把全球人群分为153个单倍群(haplogroup)。大量研究显示,Y染色体无精子因子(azoospermia factor,AZF)区基因重组引起的缺失是导致男性不育的重要原因。常见的缺失类型为AZFa、AZFb、AZFc、AZFbc、AZFabc,以及AZFc区的部分缺失:gr/gr缺失、b2/b3缺失。目前研究表明,Y染色体单倍群不但与精子发生相关,而且与Y染色体微缺失相关,即某些单倍群易发生Y染色体微缺失而导致男性不育。 展开更多
关键词 Y染色体单倍 精子发生 gr/gr缺失 b2/b3缺失 男性不育
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土家族源流的遗传学初探 被引量:7
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作者 谢选华 李辉 +5 位作者 毛显赟 文波 高嵩 金建中 卢大儒 金力 《Acta Genetica Sinica》 SCIE CAS CSCD 北大核心 2004年第10期1023-1029,共7页
通过分析湖北恩施、湖南吉首地区土家族两个人群样本 ,利用 14个Y染色体非重组区 (NRY)单倍群分型技术对土家族的遗传结构进行了研究。分型结果结合其他地区土家族两个人群和相关民族群体进行主成分分析 ,并将分析结果根据不同人群的地... 通过分析湖北恩施、湖南吉首地区土家族两个人群样本 ,利用 14个Y染色体非重组区 (NRY)单倍群分型技术对土家族的遗传结构进行了研究。分型结果结合其他地区土家族两个人群和相关民族群体进行主成分分析 ,并将分析结果根据不同人群的地理分布展示在地图上。然后对各主成分和单倍群进行偏相关分析来探讨它们之间的相关性。结果显示土家族主体与汉族在父系结构上比较接近 ,但依然有一定的区别。同时还发现龙山地区唯一保留土家语的土家族与氐羌族群有很明显的相关性 ,这说明土家族最早的起源可能正是氐羌民族。实验结果表明 ,恩施和吉首地区的大部分土家族与周边民族群体间的血缘交流频繁 ;而龙山和永顺的土家族更能代表土家先民的遗传结构 。 展开更多
关键词 土家族 Y染色体单倍 巴人 起源 主成分分析
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Morphological and karyotypic variation in three wild populations of Meretrix meretrix 被引量:1
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作者 邓岳文 杜晓东 +1 位作者 黄荣莲 王庆恒 《Chinese Journal of Oceanology and Limnology》 SCIE CAS CSCD 2008年第1期76-80,共5页
Three wild populations of Meretrix meretrix sampled from Dongxing, Beihai, and Shankou along the coast of Guangxi, China, were investigated with morphometry and karyometry. Six morphological indices (shell length, she... Three wild populations of Meretrix meretrix sampled from Dongxing, Beihai, and Shankou along the coast of Guangxi, China, were investigated with morphometry and karyometry. Six morphological indices (shell length, shell height, shell width, hinge length, total wet weight and shell weight) were measured. Differences in all morphological indices except hinge length were significant among the three populations (P < 0.05). The mean values of these indices (except for the hinge length) in the Dongxing population were larger than those in the Beihai and Shankou populations, although the latter had the largest hinge length. The karyotype of the Beihai, Shankou and Dongxing samples had ten metacentric, six submetacentric, and three subtelocentric chromosome pairs. No significant difference was shown in the centromeric index values of the chromosomes in the populations (P>0.05). However, the order of metacentric, submetacentric and subtelocentric chromosome pairs was variable among the three populations. The results indicate a high level of inter-population variation in morphology and karyotype. 展开更多
关键词 Meretrix meretrix POPULATION MORPHOLOGY KARYOTYPE
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Study on the extra X chromosome's effect on the hormone level of Klinefelter's syndrome
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作者 TU Zhi-ming HONG Hui-li SONG Jie 《Journal of Life Sciences》 2007年第1期7-13,共7页
Klinefelter's syndrome is an inherited (genetic) disorder found only in men caused by at least one extra X chromosome in a cell. Does the extra X chromosome have any effect on the hormone level of Klinefelter's Sy... Klinefelter's syndrome is an inherited (genetic) disorder found only in men caused by at least one extra X chromosome in a cell. Does the extra X chromosome have any effect on the hormone level of Klinefelter's Syndrome? In this paper, 25 subjects with Klinefelter's syndrome, 30 infertile subjects and 36 normal men without Klinefelter's syndrome were compared each other in endocrinology profile and cytogenetics. Subjects with Klinefelter's syndrome were identified by the karyotypes 47, XXY or 47, XXY/46XY, and positive of the X-chromatins (Barr bodies). Hormone analysis of subjects with Klinefelter's syndrome showed that the testosterone (T) values were lower than those of the normal subjects, while the FSH and LH values were higher than those of the normal people; in the infertile experiment subjects without Klinefelter's Syndrome, the karyotypes are 46, XY, with negative of the X-chromatins. The testosterone (T) values of these subjects were also lower than those of the normal people, but the FSH and LH values were within the normal range. These results indicated that endocrinological test on infertile subjects can be used to determine whether a cytogenetic analysis is necessary, and hence exclude non- Klinefelter's syndrome. The mechanism of the occurrence of this difference, its clinical applications and the relationship among the karyotypes, the endocrinological test and the severity of the phenotype are discussed. Lyon's hypothesis stating that only one of the two X-chromosomes is genetically active in female cells, but our study concluded that the extra X chromosome do have effect on the hormone level of Klinefelter's Syndrome. 展开更多
关键词 Klinefelter's syndrome HORMONE X-CHROMOSOME Barr body
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Association of single nucleotide polymorphism rs2076185 in chromosome 6P24.1 with premature coronary artery diseases in Chinese Han population
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作者 Xin LIU Min ZHANG +2 位作者 Hong-Wei SHAN Xian-Tao SONG Shu-Zheng LYU 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2016年第2期138-144,共7页
Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 pati... Objectives To study the association of single nucleotide polymorphism (SNP) rs2076185 in chromosome 6p24.1 with the premature coronary artery diseases (PCAD) in Chinese Hun population. Methods A total of 1382 patients were divided into the PCAD group and the control group based on their coronary arteriography (CAG) results. Their SNP rs2076185 were analyzed by the mass-spectrometry. Their allele and genotype frequency in Hardy-Weinberg equilibrium were calculated for assessment. Logistic regression was employed to remove confounding factors and correlate SNP rs2076185 with PCAD. Results The allele and genotype frequencies of the control group were in Hardy-Weinberg equilibrium (P 〉 0.05). The frequencies of allele G of rs2076185 were 54.2% in the PCAD group and 49.5% in the control group. The difference was significant (P = 0.042). The genotype distribution ofrs2076185 of the two groups was also significantly different. The univariate analysis showed that the rs2076185 polymorphisms were associated with the PCAD only in the additive model (OR: 0.828, 95% CI: 0.711-0.964, P = 0.014), and in the dominant model (OR: 0.753, 95% CI: 0.591-0.958, P = 0.021). After removing the confound- ing variables, the rs2076185 polymorphisms was associated with PCAD in the additive model (OR: 0.775, 95% CI: 0.648-0.928, P = 0.005), in the dominant model (OR: 0.698, 95% CI: 0.527-0.925, P = 0.012), and in the recessive model (OR: 0.804, 95% CI: 0.538-0.983, P - 0.038). Conclusion Allele G of rs2076185 reduces the PCAD risks in Chinese Hun population, therefore it could be a coronary artery diseases protective factor in Chinese Hun population. 展开更多
关键词 Chinese Han population GENE Premature coronary artery disease Single nucleotide polymorphism
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Inhibition of BET selectively eliminates undifferentiated pluripotent stem cells 被引量:2
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作者 Jung Hyun Im Seon In Hwang +10 位作者 Jong-Wan Kim soon-Jung Park Kyu-ree Kang Jueng Soo You Kee Pyo Kim Sung-Hwan Moon Hyuk-Jin Cha Hyung-Min Chung Hans R. Scholer Jung Keun Hyun DongWook Han 《Science Bulletin》 SCIE EI CSCD 2018年第8期477-487,共11页
Embryonic stem cells (ESCs) maintain their cellular identity through the systematic regulation of master transcription factors and chromatin remodeling complexes. Recent work has shown that the unusually large-scale... Embryonic stem cells (ESCs) maintain their cellular identity through the systematic regulation of master transcription factors and chromatin remodeling complexes. Recent work has shown that the unusually large-scale enhancers-namely super-enhancers (SEs), on which BRD4, a member of the bromodomain and extraterminal domain (BET) family is highly enriched-could regulate pluripotency-related transcrip- tion factors. Moreover, inhibition of BRD4 binding on SEs has been shown to induce the differentiation of ESCs. However, the underlying mechanism of BRD4 inhibition-mediated stern cell differentiation remains elusive. Here we show that both mouse and human ESCs lose their capacity for self-renewal upon treat- ment with JQ1, a selective inhibitor of BET family including BRD4, with rapid suppression of pluripotency-associated genes. Notably, a high concentration of JQI could selectively eliminate ESCs via apoptosis, without affecting the functionality of differentiated somatic cells from ESCs, suggesting that inhibition of BET may have a beneficial effect on the development of pluripotent stem cell-based cell therapy. 展开更多
关键词 Bromodomain and extraterminal domain (BET) JQ1 Pluripotent stem cells
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LincRNA-1614 coordinates Sox2/PRC2-mediated repression of developmental genes in pluripotency maintenance 被引量:1
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作者 Xudong Guo Zikang Wang +5 位作者 Chenqi Lu Wujun Hong Guiying Wang Yanxin Xu Zhongmin Liu Jiuhong Kang 《Journal of Molecular Cell Biology》 SCIE CAS CSCD 2018年第2期118-129,共12页
Large-intergenic noncoding RNAs (lincRNAs) cooperate with core transcription factors to coordinate the pluripotency network of embryonic stem cells. The mechanisms by which lincRNAs affect chromatin structure and ge... Large-intergenic noncoding RNAs (lincRNAs) cooperate with core transcription factors to coordinate the pluripotency network of embryonic stem cells. The mechanisms by which lincRNAs affect chromatin structure and gene transcription remain mostly unknown. Here, we identified that a UncRNA (linc1614), occupied by pluripotency factors at its promoter, was indispensable for both maintenance and acquisition of pluripotency. Linc1614 sewed as a specific partner of core factor Sox2 in maintaining pluripotency, primarily by mediating the function of Sox2 in the repression of developmental genes. Moreover, Ezh2, an essential subunit of polycomb repressive complex 2 (PRC2), physically interacted with linc1614 and contributed to lincRNA-mediated transcriptional silencing. Thus, we propose that the interplay of linc1614 with Sox2 implicates this lincRNA as a recruitment platform that mediates transcriptional silencing by guiding the PRC2 complex to the loci of developmental genes. 展开更多
关键词 lincRNA SOX2 pluripotency maintenance PRC2 REPROGRAMMING
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