基于二代测序技术的多源遗传标记检测体系的构建与验证

近年来,法医实践中对复杂亲缘关系的鉴定需求越来越多,需要联合多种遗传标记进行判断,如STR、X/Y遗传标记、SNP、线粒体DNA等。二代测序技术可以将多种遗传标记纳入一个检测体系中。本文报道了开发出的一套包含29个常染色体STR、36个Y-STR、32个X-STR、71个Y-SNP以及mtDNA全基因组的检测体系DNATyperTMNGSPanel v1.0。根据DNA分析方法科学工作组(SWGDAM)的验证指南,对该体系的重复性、准确性、一致性、灵敏度、混合样本、物种特异性等指标进行了评估。结果表明,该体系分型结果与毛细管电泳的一致性为99.72%,与ForenSeq™DNA Signature Prep Kit试剂盒相重合的基因座结果均完全一致。在0.5~10 ng DNA模板量范围内无等位基因丢失,而在0.25、0.125 ng时分别出现2、9个基因座的丢失。在男女混合比例为2:1时女性成分开始出现等位基因丢失,混合比例为9:1、4:1、2:1、1:1时,检出率分别为54.72%、81.13%、98.11%、100%,若男女混合比例为1:4则男性成分开始出现等位基因丢失,当混合比例为1:1、1:2、1:4、1:9时检出率分别为100%、100%、90.24%、82.93%。该体系对猪、牛、鼠、食蟹猴、恒河猴的DNA几乎没有扩增发生。因此,本体系的检测通量高,灵敏度和稳定性高,分型准确性和重复性好,对混合样本的检出能力较强。通过单次检测就可同时获得父系、母系相关的遗传信息,能有效提高个体识别能力和亲权鉴定效能。

云南僰人源流的父系和母系遗传研究

对云南人32份男性DNA样本进行Y染色体单倍型以及mitochondrialDNA(mtDNA)单倍型分析,结果发现云南人的父系和母系遗传组分都表现出典型的南方人群的遗传特征。由人的数据结合已经发表的东亚人群的Y染色体和mtDNA单倍型(haplotype)数据进行MultidimensionalScaling(MDS)分析,结果表明,在MDS分布图中人群体的Y染色体单倍型和mtDNA单倍型都与南方人群聚在一起。这一结果支持人的遗传族源为东亚南方人群后裔,与考古学的推论相一致。结合历史和考古学证据来探讨人的起源和史前迁移,为揭开“人悬棺”这种独特的考古文化的起源和史前传播提供遗传学的研究证据。

听源性遗传癫痫易感大鼠大脑皮层胆囊收缩素mRNA的原位杂交检测(英文)

本实验用原位杂交法 ,对听源性遗传癫痫易感大鼠 (P77PMC)癫痫发作前、单次癫痫发作和多次发作时大脑颞皮层CCKmRNA阳性信号进行了检测。结果显示 :(1)单次和多次癫痫发作后颞皮层CCKmRNA阳性神经元数量明显增加 (P <0 .0 1) ;(2 )多次癫痫发作者上述脑区CCKmRNA阳性神经元数量较单次癫痫发作有明显的下降 (P <0 .0 1)。大脑颞皮层CCKmRNA增高表明 ,CCKmRNA在癫痫发作过程中起了某种作用 ;多次癫痫发作大鼠CCKmRNA表达降低提示 ,单次和多次癫痫发作时大脑皮层对CCKmRNA转录的调控可能存在不同的机制。

籼稻矮源遗传研究——论双桂、丛桂等品种矮生性的遗传性质

本试验研究了双桂1号、双桂36号和丛桂226等半矮生性品种的株高遗传。结果表明,其半矮生性受二对基因互补作用的控制,基因型为sd-1 sd-1 dg(t)dg(t),sd-1和dg(t)分别渊源于矮仔占和桂阳矮1号。研究证明,“丛生快长型”籼稻育种是我国籼稻育种矮源利用的新发展。

短枝木麻黄在福建东山试点的种源试验结果分析与选择

对设在福建省东山试验点的41个短枝木麻黄种源的11个性状遗传分析表明,种源间在各个生长和形态性状上存在显著或极显著差异,遗传力在039～088之间,表明各性状的差异主要由遗传因素所致,具有较强的选择潜力.遗传相关分析结果表明,除冠幅与树高相关性不显著外,其他各生长性状之间的相关性达极显著水平,主干分叉习性与主干通直度间呈极显著相关.以用材林为培育目标,选择材积、胸径、树高为主要指标,同时考虑主干分叉习性、主干通直度等干形性状,从41个种源中筛选出7个优良种源,分别为18014(印度)、18154(菲律宾)、18157(马来西亚)、18153(巴布亚新几内亚)、18296(泰国)、18312(瓦努阿图)和广东湛江种源,这些优良种源的增产作用十分明显.

自育甘蔗品系系谱遗传分析

自育甘蔗品系系谱遗传分析结果表明:自育112个甘蔗品系的细胞质源只有3个,即班扎马新嘿潭,黑车里本和拔地拉,尤以前二者为主,约占98.2%。细胞质相当集中。112个品系的总遗传组成源共有24个原始基础种质,其中4个刈手密种,2个印度种,11个热带种,3个中国种及大茎野生种、斑茅、蔗茅、高梁。几乎全部品系含有爪哇刈手密、印度刈手密、春尼、班扎马新嘿潭、黑车里本、路打士、拉海那、斐济和一个品种名未详的中国种,说明遗传组成非常相近。从系谱图看其亲缘关系,112个品系全部是刈手密种、印度种、热带种的后代,有95个品系还是中国种的后代,59个是大茎野生种或斑茅、蔗茅、高梁这些种属的后代。并对亲本选择利用,杂交组合的配置,扩大遗传组成源等方面进行分析探讨。

毛竹种源多性状综合选择的研究

应用主成份回归分析对 16个毛竹种源的鲜笋产量、质量、新竹胸径、单株竹重、总竹重和抗性等性状进行定量的综合评价。筛选出综合性状优良的Ⅰ类种源 4个 ,即福建武夷、福建建瓯、福建沙县和江西上饶种源。中选种源的鲜笋重大于群体平均值 17 2 1%～ 16 42 % ,8种人体必需氨基酸含量平均增益 15 0 1% ,感病虫指数低于平均值 2 4 93%～ 6 3 37%。

基于全基因组数据的AI-SNPs筛选及大陆次级区域内群体遗传结构差异研究

在涉及多群体样本的医学研究中,群体遗传结构差异是不容忽视的影响因素之一。利用族源信息单核苷酸多态性遗传标记(ancestry-informative single nucleotide polymorphism,AI-SNP),通过分析群体遗传成分、推断个体遗传背景并对群体样本进行预筛选,可以有效降低群体遗传结构差异对医学研究影响。鉴于已发表的研究多为解析大陆间、大陆次级区域间的群体遗传结构差异,本研究拟基于千人基因组计划(GRCh37.p13)中东亚五群体:日本东京群体(Japanese in Tokyo,JPT)、北京汉族(Han Chinese in Beijing,CHB)、南方汉族(Southern Han Chinese,CHS)、西双版纳傣族(Chinese Dai in Xishuangbanna,CDX)、越南京族(Kinh in Ho Chi Minh City,KHV)的数据,以FST值为标准筛选AI-SNP并分析大陆次级区域内群体遗传结构差异。结果表明,研究涉及的东亚群体可分为三簇:JPT、CHB和CHS、CDX和KHV。利用AI-SNP可成功解析个体的遗传背景,而群体代表性遗传成分占比超过80%的个体具有良好的群体代表性。本研究表明,基于FST值筛选一组AI-SNP用于核验样本遗传背景、筛选群体代表性样本的方法在降低大陆次级区域内群体遗传结构差异对群体相关医学研究的影响中具有实际应用价值。

马尾松幼林生长性状遗传分析

引入新的遗传参数相关遗传力和多元遗传力对4年生马尾松种源试验林的七个性状进行分析,从整体上评估马尾松性状间的相关和遗传力,从相关显著说明,种源选择可采用间接选择方案。以每个种源的主分量值作为评定标准,共评出21个速生种源。浙江省以推广抗性强种源为宜。

脑源性神经营养因子基因多态性与散发性帕金森病的相关性(英文)

背景:脑源性神经营养因子对多巴胺能神经元具有特殊保护作用,而帕金森病的主要病理改变是黑质致密部多巴胺能神经元的变性和丢失。帕金森病的发生可能与脑源性神经营养因子基因多态性有关。目的:探讨中国人群中脑源性神经营养因子基因多态性与散发性帕金森病的相关性,以期为该病的一级康复预防提供遗传学数据。设计:以散发性帕金森病患者DNA 为研究对象,以社区健康人群DNA 为对照,探索性基础研究。单位:华中科技大学同济医学院附属协和医院神经内科,华中科技大学人类基因组中心。对象:以武汉协和医院神经内科提供85例散发性帕金森病患者(研究组,均为汉族,居在华中地区长期居住)DNA 和华中科技大学人类基因组中心提供的健康人(对照组,均为汉族,居在华中地区长期居住)DNA 为研究对象。方法:采用聚合酶链反应-限制性片段长度多态性分析方法,对健康人和散发性帕金森病患者进行基因分型。主要观察指标:检测两组G 196A 和C270T 多态性位点的基因型及等位基因。结果:研究组和对照组G 196A 多态性位点均以G /A 基因型为主,频率分别为50.6%和52.0%;C270T 多态性位点均为C /C 基因型。两组间脑源性神经营养因子基因G 196A 和C270T 多态性位点各基因型和等位基因频率差异均无显著性(P >0.05)。结论:中国华中地区汉?

Research on Background and Utilization of Germplasm Resources in Maize

[Objective] The research aimed at introducing the background and utilization of germplasm resources in maize.[Method] The research progress on genetic background and utilization of maize germplasm resources was comprehensively reviewed in this paper,including maize heterotic groups and heterotic patterns,their flexible application in breeding and the utilization of various types of original materials.[Result] The results show that germplasm resource is the premise and basis for maize breeding.In-depth understanding and a reasonable selection of germplasm resources can significantly improve the breeding efficiency and speed up the breeding process.At the same time,it is considered that the selection and construction of original materials in maize breeding can not be limited to the heterotic groups and heterotic patterns,but has to be used reasonablely according to different types of germplasm resources and individual breeding objective and idea as well.[Conclusion] This study had broadened the idea and provided inspiration for the maize breeding practice in China.

A Unique Aegilops tauschii Genotype Needless to Immature Embryo Culture in Cross with Wheat

Common or bread wheat ( Triticum aestivum L., AABBDD, 2n=42) originated ca. 8 000 years ago from hybridization of tetraploid wheat ( Triticum turgidum L., AABB, 2n=28) and diploid Aegilops tauschii Coss. (DD, 2n=14). An essential prerequisite for this evolutionary step is that the natural hybrids between tetraploid wheat and diploid Aegilops tauschii can produce relatively many filled seeds which germinated well. In this study, without special techniques, e.g. immature embryo culture, out of 22 Ae. tauschii accessions, the genotype AS60 produced relatively many filled seeds which germinated well. The seed germination percentages in the crosses of Ae. tauschii ×tetraploid wheat, tetraploid wheat× Ae. tauschii and Ae. tauschii ×common wheat were, respectively, 50.0%, 57.1% and 45.5%. It seems that Ae. tauschii accession AS60 has a unique genotype which facilitate hybrid seed development and viability, and which meets with the prerequisite for wheat evolutionary. Furthermore, the significance of this finding for common wheat improvement and evolution was discussed.

Study on Present Status of Plant Germplasm Resources Conservation and Countermeasures

Plant germplasm resources is the material foundation and key point for agricultural production, crop breeding and bioengineering. China is one of the centers for the origin of the cultivated plants worldwide, as well as one of the countries with most abundant plant resources and the highest biodiversity. Strengthening research in the conservation and utilization of plant germplasm resources is of significant value and importance. In this study, the present status of conservation, utilization, and existing problems of plant germplasm resources in China and around the world were reviewed; further, through analyzing measures taken by global countries for plant germplasm resources protection, countermeasures for plant germplasm resources conservation in China were also presented from three aspects, namely, collection and conservation, information network construction and national legislation and policies.

ISSR Analysis of Genetic Relationship of Germplasm Resource in Prunus mume Sibe. et Zucc

Using ISSR technique to analyze the diversity and genetic relationship of germplasm resources in 39 Prunus mume Sibe. et Zucc., the result showed that 10 primers were screened with high resolution from 51 primers, 120 fragments were amplified, of which 98 were polymorphic loci, accounting for 81.67% of total. Tested materials were divided into 3 classes, as was fundamentally accorded with the traditional classification base on horticulture. There was no obvious difference in geographic relationship among the clustering results.

Genetic Diversity Analysis of 44 Shares of Hibiscus cannabinus L. Germplasm Resources Using ISSR Molecular Marker

[Objective] This study was to reveal the genetic diversity and genetic relationship of the kenaf(Hibiscus cannabinus L.) resources from different origins, thus providing basis for genetic improvement and molecular marker-assisted breeding of kenaf. [Method] Ninety one ISSR molecular markers were used for amplification on 44 shares of kenaf germplasm resources, of which 21 showing good diversity and clear bands were chosen for PCR amplification. Based on amplification results, the genetic similarity coefficients among kenaf germplasm resources were calculated by using analytic software NTSYSpc-2.10e, and phylogenetic tree was then established via UPGMA. [Result] Totally 169 bands were amplified using the 21 screened primers, averagely 8.05 bands were amplified from each primer. Of them, 141 bands were polymorphic, accounting for 83.4%. When genetic similarity coefficient 0.887 was used as criterion L1, these 44 shares of kenaf germplasm could be classified to be 32 shares of cultivars and 12 shares of wild type or half-wild type varieties. When genetic similarity coefficient 0.897 was used as criterion L2, these 32 shares of cultivars could be further grouped into four sub-clusters. The genetic diversities between cultivars and wild type or half-wild type varieties were between 0.46-0.91, showing huge hereditary difference; while that among 32 cultivars were between 0.85-0.97, suggesting that genetic relationships among cultivars are relatively close and their genetic similarities are rather narrow. [Conclusion] ISSR could well determine the genetic similarities among kenaf germplasm resources and provide valuable molecular information for selecting parents of hybrid cross, which can lay a good foundation for DNA mapping of kenaf germplasm resources.

Study on Genetic Diversity of Agronomic Traits and Genetic Relationships among Core Collections of Bitter Gourd

[Objective] This study aimed to investigate the genetic diversity of agronomic traits and genetic relationships among core collections of bitter gourd.[Method] Total 141 germplasms of bitter gourd were selected,and the genetic diversity of 13 agronomic traits was analyzed.In addition,total 46 core collections of bitter gourd were employed,and their genetic relationships were analyzed based on the phenotypic values and genotypic values of 5 agronomic traits,respectively.[Result] The genetic diversity analysis of agronomic traits showed that the genetic diversity indexes of the 4 qualitative traits of bitter gourd germplasms ranged from 0.46 to 1.34;the distribution of the 9 quantitative traits data was more dispersed with average coefficient of variation of 20.02%.The genetic relationship analysis showed that based on the phenotypic values and genotypic values of the 5 quantitative traits,the genetic distances among the 46 core collections of bitter gourd were different.Based on the genotypic values,the genetic distances among the 46 bitter gourd core collections ranged from 0.84 to 10.71.The 46 germplasms were divided into 17 groups with the rescaled distance of 8.5,which further classified the relationships among different germplasms.[Conclusion] This study will lay a solid foundation for the effective utilization of core collections and new variety breeding in bitter gourd.

Genetic Variation of Mitochondrial D-loop Region and Evolution Analysis in Some Chinese Cattle Breeds

The complete mitochondrial D-loop region from 123 individuals in 12 Chinese cattle breeds and two individuals in Germany Yellow cattle breed was sequenced and analyzed. The results were shown as follows： 93 variations and 57 haplotypes were detected, and the average number of nucleotide difference was 22.708, nucleotide diversity （π） was 0.0251 ± 0.00479, and haplotype diversity （Hd） was 0.888 ± 0.026, indicating very high genetic diversity in Chinese cattle breeds. In the Neighbor-Joining tree, 13 cattle breeds were divided into two main clades, Bos taurus and Bos indicus; new Clade Ill had only one sequence from Apeijiaza cattle breed in Tibet, which was similar to that of yak at a higher level than other cattle breeds, proving the introgression of genes from the yak. The proportions of Bos taurus and Bos indicus were 64.3 % and 35.7 % respectively in Xigaze Humped cattle breed, and 50.0% and 50.0% respectively in Apeijiaza cattle breed, which revealed that Tibet cattle included Bos indicus haplotypes. The importance of Yunnan cattle in the origin of Chinese cattle was also confirmed based on their abundant haplotypes. Then, a very special haplotype il discovered in 27 Chinese cattle breeds, including 11 breeds in this study and 16 breeds in the GenBank, played the role of a nucleus in Chinese zebu and was further discussed. At the same time, the construction of Chinese zebu core group based on haplotype il validated the distinct origin of Bos indicus in Tibet, which was different from that of the other cattle breeds with zebu haplotypes in China.

Collection and Preservation of Cashew Germplasms Resources Research Progress in China

The cashew tree is a typical tropical nut tree species in China, and the collection, identification and innovated utilization of excellent cashew germplasm resources are of great significance to increase the income of farmers and agricultural benefits in the tropical area of China. This study summarized the major advances on cashew germplasm resources in China, analyzed the major research progress and existing problems from the aspects of the collection and evaluation, resistances, genetic diversity of cashew germplasm resources, and put forward the work ideas to analyze the construction of core germplasm bank and the genetic stability of the major biological characteristics of cashew germplasm resources, which were of important significance for the improvement of the cultivar classification and resource evaluation system of cashew germplasm resources in China.