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Frontiers in Biology 2006年第1期1卷 41-45页

作者： Shi Xiaoming Li Ke nie yanli Zhang Genfa College of Life Sciences Beijing Normal UniversityBeijing 100875China

We analyzed the activities of specific enzymes,esterase and peroxidase,and the electrophoresis profiling of isozymes of both the second-generation(M1)and the thirdgeneration(M2)individuals of Arabidopsis thaliana after the parental generation was treated with low-energy N+implantation andγ-*** indicated that the mutagenic effects of both treatments were *** obvious difference between N+implantation andγ-radial on the relationship of doses and effects was also *** the correlation between effects and doses,the former presented a particular saddle-like pattern,while the latter showed a pattern of *** amplification of polymorphic DNA analysis showed that the variant DNA bands were consistent in M1 and M2 generations treated with bothγ-radiation and ion ***,the ratio of individual plant variation between the two treatments was remarkably different.

关键词： ion implantation γ-ray isozyme Arabidopsis thaliana RAPD

Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation

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Science China(Life Sciences) 2019年第7期62卷 886-894页

作者： Wei Guo yanli nie Zhiqiang Yan Xiaohui Zhu Yuqian Wang Shuo Guan Ying Kuo Wenxin Zhang Xu Zhi Yuan Wei Liying Yan Jie Qiao Center for Reproductive Medicine Department of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationBeijing 100191China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction Beijing 100191China Bering Advanced Innovation Center for Genomics Peking UniversityBeijing 100871China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China

Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal *** this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffered from four times of unsuccessful pregnancy due to unexplained recurrent fetal malformations with similar symptoms and normal chromosome copy number *** trio-whole exome sequencing(trio-WES) for this couple and one of the affected fetuses,we found a mutation,c.1996 delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband,leading to Schaaf-Yang *** screen this mutation,we further performed preimplantation genetic diagnosis(PGD) strategy followed by a gene pedigree validation and pathogenicity *** the transfer of a PGD-screened embryo,a normal newborn without previous abnormal symptoms was born(February 15,2019).We present the first data that identified a pathogenic gene(MAGEL2 c.1996 delC) in a fetus with Schaaf-Yang syndrome in the EAS(East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results.

关键词： unexplained recurrent fetal malformations whole exome sequencing (WES) preimplantation genetic diagnosis (PGD) Schaaf-Yang syndrome

Characterizationof IP3 binding protein in Oryza sativa

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Characterizationof IP3 binding protein in Oryza sativa

A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis

2013全国植物生物学大会

作者： nie yanli DONG Shujun HAN Shengcheng Beijing Key Laboratory of Gene Resource and Molecular Development College of Life SciencesBeijing Normal University

Inositol 1,4,5-Trisphosohate（IP3） is a global secondary messenger of signal transduction in organism *** receptor（IP3 R） is purified and characterized from rat cerebellum through biochemistry

关键词： heparin-agarose resin IP3 IP3 binding proteins mass spectrometry Oryza sativa suspension cell

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Journal of Genetics and Genomics 2020年第5期47卷 281-284页

作者： Jiaxin Li Yuqian Wang Xiaohui Zhu yanli nie Ying Kuo Shuo Guan Jin Huang Ying Lian Yangyu Zhao Rong Li Yuan Wei Jie Qiao Liying Yan Department of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationBeijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive TechnologyBeijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100191China Beijing Advanced Innovation Center for Genomics Peking UniversityBeijing 100191China

Congenital contractural arachnodactyly(CCA,OMIM:121050),also known as Beals syndrome,belongs to a group of rare autosomal dominant(AD)diseases of connective tissue(Maslen et al.,1997).People with CCA share many distinguishing features,such as arachnodactyly,camp tod actyly,multiple joint contractures(especially finger,elbow,and knee joints),crumpled ears,scoliosis,pectus deformities,and muscular hypoplasia(Jurko et al.,2013).It exhibits no specific geographic or ethnic predilection(Frederic et al.,2009).

关键词： al. diagnosis congenital

Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

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Journal of Genetics and Genomics 2016年第9期43卷 541-547页

作者： Yixin Ren Xu Zhi Xiaohui Zhu Jin Huang Ying Lian Rong Li Hongyan Jin Yan Zhang Wenxin Zhang yanli nie Yuan Wei Zhaohui Liu Donghong Song Ping Liu Jie Qiao Liying Yan Department of Obstetrics and Gynecology Third Hospital Peking University Key Laboratory of Assisted Reproduction Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology Peking-Tsinghua Center for Life Sciences Peking University

Conventional PCR methods combined with linkage analysis based on short tandem repeats （STRs） or Karyomapping with single nucleotide polymorphism （SNP） arrays, have been applied to preimplantation genetic diagnosis （PGD） for spinal muscular atrophy （SMA）, an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild- type embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses （MARSALA） is a new method allowing embryo selection by a one-step next-generation sequencing （NGS） procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously. In this study, we carried out PGD based on MARSALA for two carrier families with SMA affected children. As a result, one of the couples has given birth to a healthy baby free of mutations in SMA-causing gene. It is the first time that MARSALA was applied to PGD for SMA, and we can distinguish the embryos with heterozygous deletion （carriers） from the wild-type （normal） ones accurately through this NGS-based method. In addition, direct mutation detection allows us to identify the affected embryos （homozygous deletion）, which can be regarded as probands for linkage analysis, in case that the affected family member is absent, In the future, the NGS-based MARSALA method is expected to be used in PGD for all monogenetic disorders with known pathogenic gene mutation.

关键词： Preimplantation genetic diagnosis Spinal muscular atrophy Next-generation sequencing Mutated allele revealed by sequencing with aneuploidy and linkage analyses

Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping

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Journal of Genetics and Genomics 2018年第9期45卷 505-508页

作者： Zhiqiang Yan Yuqian Wang yanli nie Xu Zhi Xiaohui Zhu Meng Qin Shuo Guan Yixin Ren Ying Kuo Di Chang Wei Chen Peng Yuan Liying Yan Jie Qiao Center for Reproductive Medicine Department of Obstetrics andGynecology Peking University Third Hospital Beijing 100191 China Key Laboratory of Assisted Reproduction Ministry of Education Beijing 100191 China Peking-Tsinghua Center for Life Sciences Peking University Belting 100871 China Academy for Advanced Interdisciplinary Studies Peking University Beijing 100871 China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction Beijing 100191 China Beijing Advanced Innovation Center for Genomics (ICG) Peking University Beijing 100871 China

Reciprocal translocation is a chromosomal structural abnormal- ity that arises when two non-homologous chromosomes rearrange and attach with each other, an incidence that occurs in about 1/500 to 1/625 newborns （Mackie and Scriven, 2002）. This event typically does not lead to any significant loss of genetic material, thus recip- rocal translocation carriers do not exhibit any severe abnormal phenotypes （Scriven et al., 1998; Zhang et al., 2016）.

关键词： Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping CNV PGD cycle IVF

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随机对照试验在健康管理研究中的应用

中华健康管理学杂志 2019年第5期13卷 458-464页

作者：曾琳聂燕丽北京大学第三医院临床流行病学研究中心 100191 广西医科大学第四附属医院科教部柳州545005

随机对照试验(randomized controlled trial,RCT)属于实验性研究的范畴,是评价干预措施效果的"金标准"。在健康管理领域中,RCT研究可用于评价各种健康管理措施和方案的应用效果,相关应用不断增加。本文将从RCT的基本原理、特点、优势和... 详细信息

随机对照试验(randomized controlled trial,RCT)属于实验性研究的范畴,是评价干预措施效果的"金标准"。在健康管理领域中,RCT研究可用于评价各种健康管理措施和方案的应用效果,相关应用不断增加。本文将从RCT的基本原理、特点、优势和局限性、常见类型、设计和实施关键点等角度展开阐述,并结合具体的健康管理研究案例进行分析。以期帮助读者充分理解和认识在健康管理研究领域如何应用随机对照试验;协助读者在健康管理研究领域更好地进行RCT设计和开展RCT研究,收获可靠和高质量的研究成果。

关键词：随机对照试验健康管理设计实施

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针刺埋线治疗肥胖糖尿病前期患者临床研究

亚太传统医药 2016年第24期12卷 121-122页

作者：聂燕丽广西医科大学第四附属医院广西柳州545000

目的:观察针刺埋线治疗肥胖糖尿病前期患者的临床疗效。方法:将60例体重过重糖尿病前期患者随机分成研究组和对照组各30例,对照组患者予以常规饮食及运动方式干预,研究组患者在对照组的基础上予以针刺埋线治疗,两组患者均以3个月为1个... 详细信息

目的:观察针刺埋线治疗肥胖糖尿病前期患者的临床疗效。方法:将60例体重过重糖尿病前期患者随机分成研究组和对照组各30例,对照组患者予以常规饮食及运动方式干预,研究组患者在对照组的基础上予以针刺埋线治疗,两组患者均以3个月为1个疗程。观察比较疗程结束后两组患者的血糖水平、体重变化情况。结果:干预后研究组患者空腹血糖、2h血糖水平均低于对照组,体重改善总有效率(93.34%)高于对照组(71.33%),差异均具有统计学意义(P<0.05)。结论:针刺埋线可改善糖耐量受损情况,同时能达到减肥的效果,值得临床推广应用。

关键词：糖尿病前期肥胖血糖

《中华健康管理学杂志》随机对照试验的报告质量评价与研究特征分析

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中华健康管理学杂志 2020年第4期14卷 339-344页

作者：聂燕丽阳洁石展英曾琳广西医科大学第四附属医院科教部柳州545005 北京大学第三医院临床流行病中心北京100191

目的分析评价《中华健康管理学杂志》已刊发的随机对照试验的报告质量及研究特征。方法在万方数据库检索《中华健康管理学杂志》自创刊至2019年7月刊发的所有随机对照试验,两位研究者严格按照纳入排除标准筛选检索文献,根据临床试验报... 详细信息

目的分析评价《中华健康管理学杂志》已刊发的随机对照试验的报告质量及研究特征。方法在万方数据库检索《中华健康管理学杂志》自创刊至2019年7月刊发的所有随机对照试验,两位研究者严格按照纳入排除标准筛选检索文献,根据临床试验报告的统一标准(CONSORT)声明2010提取、汇总各个文献的报告质量和研究特征(含研究对象类型、招募地点、干预措施、指标评价类别等),分三个时间段(2008-2011年、2012-2015年、2016-2019年)进行评价分析。结果经过检索、筛选最终得到57篇符合要求的文献,CONSORT声明中有13/25个条目全部文献均达标,有8/25个条目部分文献达标,4/25个条目全部文献均不达标。随着时间的推移,三个时间段描述随机方法(16.7%、47.6%、66.7%)、项目获得基金项目资助(25.0%、33.3%、75.0%)与知情同意(50.0%、76.2%、100.0%)的比例有增长趋势,在三个时间段构成比差异均有统计学意义(均P<0.05)。而三个时间段文献中,研究对象均以慢性病人群为主,占比分别为58.3%、85.7%和66.7%,描述研究病例的筛选过程(41.7%、33.3%、75.0%)以及基线(83.3%、95.2%、100.0%)的构成差异均无统计学意义;但是病例的筛选过程和基线情况的描述随着时间发展有所改善。结论《中华健康管理学杂志》的研究报告质量尚待提高,尤其在随机分配方案隐藏、试验注册等方面。

关键词：健康管理 CONSORT声明报告质量研究特征文献计量学

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堆肥用作育苗基质对团花根腐病的抑制作用

东北林业大学学报 2012年第10期40卷 103-107页

作者：聂艳丽王丽杨华景童清云南省林业技术推广总站昆明650224 普洱市林业科学研究院

热区珍贵速生阔叶树种团花,其幼苗时期的根、茎易受根腐病侵染,严重影响了苗木质量。采用农业有机废物堆肥用作育苗基质,以人工接种病原菌的方法,研究育苗基质对团花根腐病的抑制作用。结果表明:13#育苗基质明显降低团花根腐病的发生,... 详细信息

热区珍贵速生阔叶树种团花,其幼苗时期的根、茎易受根腐病侵染,严重影响了苗木质量。采用农业有机废物堆肥用作育苗基质,以人工接种病原菌的方法,研究育苗基质对团花根腐病的抑制作用。结果表明:13#育苗基质明显降低团花根腐病的发生,对团花根腐病的相对防效达到93.1%。育苗基质对团花根腐病的抑制作用主要取决于育苗基质环境的物理作用、化学作用及根际微生物作用。育苗基质的密度、含水量与对团花根腐病的抑制呈负相关,育苗基质的持水孔隙度、交换性镁含量与根腐病的抑制呈正相关。根际真菌的数量与团花根腐病的发病率呈正相关关系,根际细菌的数量与对团花根腐病的发病率呈负相关关系。

关键词：育苗基质团花根腐病抑制