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1.
对伞房属CCR基因进行扩增,对影响PCR的条件进行优化,结果筛选出引物对A-3198适宜的PCR循环条件为：94℃预变性5min;94℃变性30s,60℃退火lmin,72℃延伸2min,运行30个循环;最后72℃后延伸7min。对伞房属树种进行PCR扩增时,发现用同一引物对,一个样本可以扩增出不同长度的条带。将目的片段进行克隆测序,得到6个序列。所分析的基因片段从Exon3-Exon5,其中Exon3变异位点具有3个,Intron3无变异位点;Exon4变异位点具有7个,Intron4变异位点最多,达到276个,Exon5变异位点也只有6个。从变异位点所占百分数分析,所有外显子包括Exon3、Exon4和Exon5,变异数百分率很低,从1.67%-1.98%,说明外显子是相对保守和稳定的。Intron3最稳定,无任何差异位点。Intron4差异最大,差异百分数高达,19.99%。在Intron4有4处插入发生。第1处插入发生在第2041-2067,插入27个碱基。第2处插入发生在第2127-2289,插入163个碱基。第3处插入为PolyA,6个样本都存在PolyA。第4处为SSR序列。在外显子上未发现2个或2个以上碱基的插入/缺失。从氨基酸的变异来分析,所发生的核苷酸变异很多是无义突变,只有Exon3的2个氨基酸、Exon4的3个氨基酸,以及Exon5的2个氨基酸发生有义突变。本试验于国内外首次发现伞房属树种CCR基因具有多拷贝现象,而在桉树另外2个属桉属和杯果木属的CCR研究中未曾发现。 相似文献
2.
目的：探讨抑癌基因第10染色体同源丢失性磷酸酶一张力蛋白基因（PTEN）蛋白表达与子宫内膜癌的发生、发展的关系。方法：采用免疫组织化学S-P法检测PTEN蛋白在56例子宫内膜癌及30例正常子宫内膜组织的表达。结果：56例子宫内膜癌中PTEN蛋白表达缺失率为57．1％，明显高于正常子宫内膜中的完全表达（P〈0．05）。PTEN蛋白在低分化组的表达缺失率明显高于中高分化组（P〈0．05）。结论：抑癌基因PTEN蛋白表达缺失在子宫内膜癌的发生、发展、浸润等过程中有一定作用。 相似文献
3.
目的:分析常染色体19个短串联重复序列(STR)位点在新疆蒙古族群体中的遗传多态性分布,为其法医学应用提供数据支持。创新点:丰富了新疆蒙古族群体的常染色体STR遗传数据。方法:从新疆地区采集1133个无血缘关系的蒙古族健康个体,应用一个包含常染色体19个STR位点的复合扩增体系对这些样本进行基因分型检测。同时,基于15个共有的STR位点,采用多维尺度分析、遗传距离(DA)和遗传分化系数(FST)的方法探讨了新疆蒙古族群体和既往报道的20个群体间的群体遗传关系。结论:研究的19个STR位点在新疆蒙古族群体中表现出高度的多态性,获得的累积非父排除概率和累计个体识别率分别为0.999 999 992 163和0.999 999 999 999 999 999 999 995 67,表明这19个STR位点可很好地应用于新疆蒙古族群体的个体识别和亲缘关系鉴识研究。群体遗传分析的结果显示:相比其他洲际群体,新疆蒙古族群体和维吾尔族、锡伯族以及其他中国群体具有更近的遗传距离。 相似文献
4.
在组织切片上进行原位RT-PCR扩增(in situ RT-PCR),并在扩增过程中掺入地高辛标记的尿嘧啶核苷酸(Dig-UTP),观察新基因SNC 66在胃癌组织与正常胃粘膜中的表达差异,以分析SNC 66与胃癌发生的相关性。结果发现,25个循环时,20例胃癌标本中有4例阴性不表达,16例呈强阳性表达;当循环数降至10时,则6例呈阴性,9例呈弱阳性表达,另有5例呈强阳性表达。表明SNC 66基因在胃癌组织中存在明显的表达降低或表达缺陷,SNC 66可能是一个消化道肿瘤的负相关基因。 相似文献
5.
基于近红外光谱结合化学模式识别中的偏最小二乘法研究了一种快速、简单和低成本检测STR基因型的方法．选择STR基因座D5S818中的总串数相差较大的10—10、11—11与13—13基因型作为研究对象,将这三个基因型样本进行标准的PCR扩增并采集PCR产物的近红外光谱,以每一基因型的任意三分之二样本作为校正集,剩余三分之一作为预测集样本,探索了基于近红外光谱进行基因分型的可能性,结果发现该三类模型能够得到正确的判别,没有误判,预测集预测率达到100％．成功实现了基于近红外光谱对STR基因型的快速、简单和低成本检测． 相似文献
6.
目的研究山东地区汉族人群4个STR位点（D10S1248、D14S1434、D22S1045、SE33）的遗传多态性.方法运用PCR扩增、8%非变性聚丙烯酰胺凝胶电泳结合银染技术对152个无关汉族人群个体进行多态性研究.结果4个位点分别检测出72、80、72、136个等位基因片段,共有53个基因型,其频率分布在0.0526~0.1579之间,经检测其多态性分布符合Hardy-weinberg平衡定律.4个STR位点多态信息量（Polymorphism information content,PIC）分别为0.8493、0.8785、0.8173、0.9157.期望杂合度（Heterozygosity,HET）分别为0.8643、0.8892、0.8374、0.9211.结论山东地区汉族该4个STR基因座位点的多态性数据显示其基因分布特征具有特异性. 相似文献
7.
目的:通过检测奶牛CD4基因选择性剪接,为研究CD4基因的结构和功能打下基础。方法:采集奶牛尾静脉血,提取血液总RNA后反转录成cDNA。通过反转录PCR扩增和测序,以鉴定CD4基因剪接体和单核苷酸多态性。结果:通过序列比对分析,发现奶牛CD4基因外显子8处存在缺失,扩增的两种CD4mRNA序列长度相差122bp(整个外显子8缺失)。另外,在牛CD4基因外显子8处检测到1个碱基突变(C/A)。结论:奶牛CD4基因发现两种相差外显子8的剪接体,并检测到1个SNP。 相似文献
8.
目的:调查D16S539、D7S820及D13S317三个STR基因座在张家口地区汉族人群的等位基因分布,获得相关群体遗传学参数.方法:用SilverⅢ Multipiex试剂盒复合扩增,聚丙烯凝胶电泳分型,银染显带.结果:108例汉族群体在3个基因座上均各检出7个等位基因,多态性分别为0.7314、0.7371、0.7635;个人识别率依次为0.8912、0.8948、0.9223,累计0.9986.结论:3个STR基因座在本地有较高的遗传多态性,在法医学及人类遗传学方面有较好的应用价值. 相似文献
9.
10.
孩子的遗传特征 (标记 )是由其父母双方提供的基因组合而成的 ,从受精的那一瞬间就已经决定了 ,检验父母、小孩三者的遗传特征 ,看它是否符合遗传规律 ,从而可进行亲子鉴定。常见的亲子鉴定方法有 :ABO血型检查、DNA指纹分析、STR技术应用。1 用红细胞血型进行亲权排除人的ABO血型是受三个复等位基因控制的 ,i为隐性基因 ,IA、IB 为显性基因。决定ABO血型的基因型有 6种 :IAIA、IAi、IBIB、IBi、IAIB、ii,表现型有 4种 :A型、B型、AB型和O型 ;血型遗传符合孟德尔遗传规律 ,在一个家庭中 ,孩子的血型基因必定来自于父母。但… 相似文献
11.
Hong-dan Wang Chun-mei Shen Wen-juan Liu Yu-dang Zhang Guang Yang Jiang-wei Yan Hai-xia Qin Bo-feng Zhu 《Journal of Zhejiang University. Science. B》2013,14(6):533-540
We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat (STR) loci and the amelogenin locus, which are not included in the combined DNA index system (CODIS), in a Russian ethnic minority group from the Inner Mongolia Autonomous Region, China. A total of 114 bloodstain samples from unrelated individuals were extracted and co-amplified with four fluorescence-labeled primers in a multiplex polymerase chain reaction (PCR) system. Using capillary electrophoresis, the PCR products of the 21 STR loci were separated and genotyped. A total of 161 alleles were observed in the Russian ethnic minority group, and corresponding allelic frequencies ranged from 0.0044 to 0.5965. The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population’s genetic background, for individual identification, and for paternity testing in forensic practice. 相似文献
12.
Genetic polymorphism analyses of a novel panel of 19 X-STR loci in the Chinese Uygur ethnic minority
Yu-xin Guo Jian-gang Chen Yan Wang Jiang-wei Yan Jing Chen Tian-hua Yao Li-ping Zhang Guang Yang Hao-tian Meng Yu-dang Zhang Ting Mei Yao-shun Liu Qian Dong Bo-feng Zhu 《Journal of Zhejiang University. Science. B》2016,17(5):367-374
The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat (X-STR) loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 (94 males and 139 females) unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction (P>0.0026), there were no significant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091, 0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the Uygur group. 相似文献
13.
INTRODUCTION Gene duplication provides a main resource of new genes in genomes (Ohno, 1970; Brown, 1999). Sequences of two paralogous genes from a duplication event will become different from each other along with evolutionary processes. And the difference in sequences caused by substitution, deletion, insertion of nucleotide acid will cause maximal sequence lengths of exact match (MALE) between paralogous members from a gene family to become shorter during evolution. As for example, o… 相似文献
14.
Yu-hua LIANG Xiao-ling CHEN Zhong-sheng YU Chun-yue CHEN Sheng BI Lian-gen MAO Bo-lin ZHOU Xian-ning ZHANG 《Journal of Zhejiang University. Science. B》2009,10(1)
Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are rec-ognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMNI and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMAI patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NA1P gene may be a modifying factor for disease severity of SMA 1. The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis of SMA. 相似文献
15.
Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results: The result showed that the patient was: DS( ), HS( ), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents' genotypes were normal. Conclusion:The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder. 相似文献
16.
Yu-hua Liang Xiao-ling Chen Zhong-sheng Yu Chun-yue Chen Sheng Bi Lian-gen Mao Bo-lin Zhou Xian-ning Zhang 《Journal of Zhejiang University. Science. B》2009,10(1):29-34
Spinal muscular atrophy (SMA) is a disorder characterized by degeneration of lower motor neurons and occasionally bulbar motor
neurons leading to progressive limb and trunk paralysis as well as muscular atrophy. Three types of SMA are recognized depending
on the age of onset, the maximum muscular activity achieved, and survivorship: SMA1, SMA2, and SMA3. The survival of motor
neuron (SMN) gene has been identified as an SMA determining gene, whereas the neuronal apoptosis inhibitory protein (NAIP) gene is considered to be a modifying factor of the severity of SMA. The main objective of this study was to analyze the
deletion of SMN1 and NAIP genes in southern Chinese children with SMA. Here, polymerase chain reaction (PCR) combined with restriction fragment length
polymorphism (RFLP) was performed to detect the deletion of both exon 7 and exon 8 of SMN1 and exon 5 of NAIP in 62 southern Chinese children with strongly suspected clinical symptoms of SMA. All the 32 SMA1 patients and 76% (13/17)
of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of
SMN1 exon 7 along with 24% (4/17) of SMA2 patients. Eleven out of 32 (34%) SMA1 patients showed NAIP deletion, and none of SMA2 and SMA3 patients was found to have NAIP deletion. The findings of homozygous deletions of exon 7 and/or exon 8 of SMN1 gene confirmed the diagnosis of SMA, and suggested that the deletion of SMN1 exon 7 is a major cause of SMA in southern Chinese children, and that the NAIP gene may be a modifying factor for disease severity of SMA1. The molecular diagnosis system based on PCR-RFLP analysis can
conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis and preimplantation genetic diagnosis
of SMA.
Project supported by the National Natural Science Foundation of China (No. J0710043), and the Natural Science Foundation of
Zhejiang Province (No. 2007C33049), China 相似文献
17.
Objective: To determine the role of microsatellite alterations in carcinogenesis of colorectal carcinoma (CRC). Methods: Alterations
of 10 microsatellite loci from 5 different chromosomes were detected in 92 colorectal cancers and their paired normal mucosa
by PCR, denatured polyacrylamide gel electrophoresis and silver staining. Associations of microsatellite alterations with
clinopathologic parameters were statistically clarifield. Results: Alterations of microsatellite were classified into microsatellite
instability type I, type II and loss of heterozygosity (LOH). The carcinoma with ≧30% loci microsatellite alterations was
defined as replication error(RER) positive tumors. Of 92 cases, 14 were RER+. Microsatellite alterations of P53(1) and D18S363 loci (64.29%) was most commonly identified in the RER+ tumors. RER+ were more commonly seen in poorly differentiated
carcinomas and tended to occur in mucoid carcinomas. The type of microsatellite alterations varied in different histological
types of CRC. Conclusions: Microsatellite alteration is a common molecular event in CRC. Different microsatellite loci showed
various biologic significance. P53(1) and D18S363 should be essentially detected loci that can show the RER status of tumors.
Project supported by the National Natural Science Foundation of China(No. 39770297) and Key Project of Zhejiang Committee
of Science and Technology(No. 961103076) 相似文献
18.
Copy number variants (CNVs) are pieces of genomic DNA of 1000 base pairs or longer which occur in a given genome at a different frequency than in a reference genome. Their importance as a source for phenotypic variability has been recognized only in the last couple of years. Chromosomal deletions can be seen as a special case of CNVs where stretches of DNA are missing in certain lines when compared to the reference genome of the mouse line C57BL/6, for example. Based upon more than 8 million single nucleotide polymorphisms (SNPs) in the fifteen inbred mouse lines which were determined in a whole genome chip based resequencing project by Perlegen Sciences, we detected 20166 such long chromosomal deletions. They cover altogether between 4.4 million and 8.8 million base pairs, depending on the mouse line. Thus, their extent is comparable to that of SNPs. The chromosomal deletions were found by searching for clusters of missing values in the genotyping data by applying bioinformatics and biostatistical methods. In contrast to isolated missing values, clusters are likely the consequence of missing DNA probe rather than of a failed hybridization or deficient oligos. We analyzed these deletion sites in various ways. Twenty-two percent of these deletion sites overlap with exons; they could therefore affect a gene's functioning. The corresponding genes seem to exist in alternative forms, a phenomenon that reminds of the alternative forms of mRNA generated during gene splicing. We furthermore detected statistically significant association between hundreds of deletion sites and fat weight at the age of eight weeks. 相似文献
19.
Inkeri Rissanen Elina Kuusisto Eija Hanhimäki Kirsi Tirri 《Journal of moral education》2018,47(1):63-77
Implicit theories concerning the malleability of human qualities are known to have a powerful impact on motivation and learning, but their role in moral education is an under-researched topic. In this qualitative case study, we examined the impact of implicit theories on four Finnish teachers’ practices of teaching morally and in teaching morality. The data include preliminary and stimulated recall interviews (STR) as well as classroom observations. Our results demonstrate the multiple ways in which teachers’ implicit beliefs are communicated to students and influence teacher’s interpretations and endeavors to educate the ethical capabilities of students. The study provides evidence for the claim that implicit theories are an important construct which has been missing from the moral education literature. Directions for future research are suggested. 相似文献