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2018中国遗传学会第十次全国会员代表大会暨学术讨论会

作者： Wenzhi Lin Chen Zeng Yuping Wu Guangdong Provincial Key Laboratory of Marine Resources and Coastal Engineering Zhuhai Key Laboratory of Marine Bioresource and EnvironmentSchool of Marine SciencesSun Yat-Sen University

Background:The coalescent-based methods（such as MSVAR, PSMG and etc.） has been increasingly used to infer the past demographic trajectory of extant species. Although it has been repeatedly pointed out that the violation of models’ assumptions will lead to bias or even false detection of demographic signal, it was not uncommon to find their application performed without proper evaluation. In this study, we inferred the demographic trajectory of four geographic populations of genus Neophocaena covering a wide latitudinal range using coalescent-based techniques;meanwhile, we modeled the historic niche for this genus along China’s coastline;finally, we cross-matched the demographic history of genus and the evolutionary process of their habitat, to evaluate whether the inference under different scenarios（e.g. the mutation model of STR） will be explained by the result of niche modeling. Results: We found contrasting conclusions when different mutation models of STR were applied. Recent bottleneck was detected, though with varying estimates of the population parameters, under most of the scenarios;while expansion was detected only under GSM with a large proportion of multi-steps mutation. Niche modeling proposed that the genus re-colonize the shelf region after the end of last glacial maximum, especially in the continental sea and gulf region, which could be taken as a basis for post-glacial expansion for the genus. Moreover, evidence was detected for the presence of historic gene flow. Though we could not applied a more complex population model to rigorously quantify this parameter with the current data set, we highlight the importance of sampling scheme in inferring past demographic history using coalescent-based methods. Conclusions:Using a case of a coastal marine mammal, we show that the convergence of coalescent simulation is not necessary to be translated into a sign of proper inference of population parameters. Therefore the possible violations of model assumptions

关键词： Bottleneck finless porpoise Neophocaena genetic diversity microsatellite coalescent-based simulation niche modeling

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First molecular genetic evidenee for automictic parthenogenesis in cockroaches

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Insect Science 2019年第4期26卷 649-655页

作者： Masashi Tanaka Takaaki Daimon Department of Applied Biosciences Graduate School of Agriculture Kyoto University Kitashirakawa Oiwakecho Sakyo-ku Kyoto Japan

Parthenogenesis is an asexual mode of reproduction that plays an important role in the evolution of sex, sociality, and reproduction strategies in insects. Some species of cockroach exhibit thelytoky, a type of parthenogenesis in which female offspring are produced without fertilization. However, the cytological and genetic mecha? nisms of parthenogenesis in cockroaches are not well understood. Here we provide the first molecular genetic evidence that cockroaches can reproduce through automixis. Using the American cockroach Periplaneta aniericana, we performed microsatellite analysis to investigate the genetic relationship between parthenogenetically produced nymphs and the parent virgin females, and found that all parthenogenetic offspring were homozygous for autosomal microsatellite markers, whereas the female parents were heterozygous. In addition, flow cytometry analysis revealed that the parthenogenetic offspring were diploid. Taken together, our results demonstrate that P. americana exhibits automixis-type thelytoky, in which diploidy is restored by gamete duplication or terminal fusion. These findings highlight the unique reproduction strategies of cockroaches, which are more varied than was previously recognized.

关键词： American cockroach automixis microsatellite Periplaneta thelytoky

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绵羊第6号染色体微卫星标记研究进展

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中国草食动物科学 2012年第S1期32卷 51-54页

作者：段永杰王利民姜怀志吉林农业大学动物科学技术学院长春130118

同一物种不同个体染色体上的碱基对大多数是相同的,但在某些位点上,不同个体间的DNA序列会出现差异,差异的DNA会影响基因的功能,进而影响性状的表型,这些差异就称为分子遗传标记。越来越多的遗传标记被广泛应用于育种研究中,而且在加快... 详细信息

同一物种不同个体染色体上的碱基对大多数是相同的,但在某些位点上,不同个体间的DNA序列会出现差异,差异的DNA会影响基因的功能,进而影响性状的表型,这些差异就称为分子遗传标记。越来越多的遗传标记被广泛应用于育种研究中,而且在加快选育进程中起到了常规育种无法替代的作用。目前,常用的遗传标记方法有:限制性片段长度多态性（RFLP）,随机引物扩增多态性DNA（RAPD）,可变数目串联重复序列（VNTR）,线粒体DNA标记,SNP标记等[1]。微卫星标记（microsatellite marker）属于VNTR的一种。

关键词：微卫星标记遗传标记随机引物扩增 microsatellite 串联重复序列 DNA 产羔数寒羊

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结直肠癌DNA错配修复蛋白和微卫星不稳定性与P53蛋白表达关系的研究

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中国药物与临床 2016年第12期16卷 1733-1734页

作者：徐恩伟山西省肿瘤医院病理科太原030013

结直肠癌是消化系统常见的恶性肿瘤,病死率较高,预后不良。近年来随着分子靶向治疗研究的不断深入,许多研究证实微卫星不稳定性（microsatellite instability,MSI）与肿瘤的发生、发展有着密切的关系,推测其可能是肿瘤发生的机制之一。... 详细信息

结直肠癌是消化系统常见的恶性肿瘤,病死率较高,预后不良。近年来随着分子靶向治疗研究的不断深入,许多研究证实微卫星不稳定性（microsatellite instability,MSI）与肿瘤的发生、发展有着密切的关系,推测其可能是肿瘤发生的机制之一。MSI是DNA错配修复蛋白（MMR）功能缺失导致的一种基因突变,这种错配修复缺陷可导致4个错配修复基因MSH2,MLH1,MSH6和PMS2的失活。

关键词：结直肠癌 P53蛋白表达错配修复蛋白微卫星不稳定性 microsatellite 错配修复基因分子靶向治疗 instability DNA 表达关系

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中国养殖加州鲈的遗传结构和分子辅助育种

中国养殖加州鲈的遗传结构和分子辅助育种

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2008年中国水产学会学术年会

作者：白俊杰 Dijar J.Lutz-Carrillo 全迎春梁素娴樊佳佳于凌云叶星李胜杰李小慧中国水产科学研究院珠江水产研究所中国水产科学研究院热带亚热带鱼类选育与养殖重点开放实验室

本文采用6对微卫星位点对中国广东地区养殖的4个加州鲈群体的遗传多样性进行了分析,并将实验数据直接与国外原产地的野生群体的相关数据进行了比较研究。在这4个养殖群体中,各位点的平均等位基因数均为2.17（标准差SD±0.00）,该结果明... 详细信息

本文采用6对微卫星位点对中国广东地区养殖的4个加州鲈群体的遗传多样性进行了分析,并将实验数据直接与国外原产地的野生群体的相关数据进行了比较研究。在这4个养殖群体中,各位点的平均等位基因数均为2.17（标准差SD±0.00）,该结果明显低于野生群体（5.55±1.35）;平均观测基因杂合度为0.37±0.03,而野生群体为0.51±0.15。这些养殖群体的等位基因频率的变异,说明近年来其有效群体数Ne减少了。等位基因比野生群体显著性减少,而杂合度的降低却不是那么明显,再结合有效群体数Ne的显著性降低,说明加州鲈养殖群体中近来已经出现了瓶颈效应。同时,本研究还对我国的加州鲈养殖群体的亚种分类地位和分子辅助育种技术进行了探讨。

关键词： Largemouth bass Micropterus salmoides Taxonomic status microsatellite genetic diversity

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Clinical significance of MLH1/MSH2 for stage Ⅱ/Ⅲ sporadic colorectal cancer

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World Journal of Gastrointestinal Oncology 2019年第11期11卷 1065-1080页

作者： Shui-Ming Wang Bin Jiang Youping Deng Shu-Liang Huang Ming-Zhi Fang Yu Wang National Center of Colorectal Disease Nanjing Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese MedicineNanjing 210022Jiangsu ProvinceChina Bioinformatics Core Department of Complementary and Integrative MedicineUniversity of Hawaii John A.Burns School of MedicineHonoluluHI 96813United States Department of Pathology Nanjing Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese MedicineNanjing 210022Jiangsu ProvinceChina Department of Oncology Nanjing Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese MedicineNanjing 210022Jiangsu ProvinceChina

BACKGROUND The development of colorectal cancer(CRC) is a complicated multistep process that involves an accumulation of mutations in tumor suppressor genes and *** the process of DNA replication, base mismatch often occurs due to various factors leading to abnormal expression of mismatch repair genes(MMR),among which MLH1 and MSH2 are the most ***, numerous studies indicated that MLH1/MSH2 phenotype is associated with *** wanted to elucidate the role of MLH1/MSH2 in the prediction and prognosis of CRC through long-term clinical *** To evaluate the prognostic and predictive significance of MLH1/MSH2 in patients with stage Ⅱ-Ⅲ CRC using immunohistochemical analysis and *** Specimens from 681 patients with CRC(395 stage Ⅱ and 286 stage Ⅲ, 387 males and 294 females) who underwent curative surgical resection from 2013 to 2016 were *** was used to analyze MMR status and the microsatellite status of 133 patients was determined by GeneScan *** Five hundred and fifty(80.76%) patients were MLH1/MSH2 positive and 131(19.24%) were negative by ***1/MSH2-positive tumors were significantly more frequent in the colon than in the rectum, and had poor differentiation and less mucin production(P < 0.05).Patients of different groups did not differ in terms of age, gender, tumor size, tumor stage, lymphocytic infiltration, or circumscribed ***1/MSH2-negative patients had a more favorable OS than MLH1/MSH2-positive patients(P < 0.001).Univariate and multivariate analyses demonstrated MLH1/MSH2 expression as an independent prognostic and predictive factor for stage Ⅱ/Ⅲ ***1/MSH2 expression was a strong prognostic factor in all patients [P < 0.001, hazard ratio(HR) = 4.064,95%CI: 2.241–7.369].Adjuvant chemotherapy had a greater correlation with survival advantage in MLH1/MSH2-negative patients with stage Ⅲ disease(P <0.001, HR = 7.660, 95%CI: 2.974–15.883).However, pati

关键词： Colorectal cancer Mismatch repair gene MLH1 MSH2 microsatellite instability

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首款广谱实体瘤抗癌疗法获批

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中国肿瘤临床与康复 2017年第8期24卷 946-946页

近日,美国FDA加速批准Keytruda（pembrolizumab）用于成人和儿童特定癌症基因特征（生物标志物）广谱实体瘤的治疗。这是美国FDA批准的首款不依照肿瘤来源,而是基于共同生物标志物的抗肿瘤疗法。据FDA官网显示,该款药物针对患有不可切... 详细信息

近日,美国FDA加速批准Keytruda（pembrolizumab）用于成人和儿童特定癌症基因特征（生物标志物）广谱实体瘤的治疗。这是美国FDA批准的首款不依照肿瘤来源,而是基于共同生物标志物的抗肿瘤疗法。据FDA官网显示,该款药物针对患有不可切除或转移性实体瘤的成人或儿童患者,

关键词：实体瘤首款生物标志物 microsatellite 微卫星不稳定性肿瘤来源错配修复基因特征 instability 头颈癌

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