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1.
The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21.  相似文献   

2.
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder leading to early death of affected males. Females with the disease are rare, but seven are known to be affected because of a chromosomal rearrangement involving a site at or near the dmd gene on the X chromosome. One of the seven has a translocation between the X and chromosome 21. The translocation-derived chromosomes from this patient have been isolated, and the translocation is shown to have split the block of genes encoding ribosomal RNA on the short arm of chromosome 21. Thus ribosomal RNA gene probes may be used to identify a junction fragment from the translocation site, allowing access to cloned segments of the X at or near the dmd gene and presenting a new approach to the study of this disease.  相似文献   

3.
The gene for familial polyposis coli maps to the long arm of chromosome 5   总被引：69，自引：0，他引：69  
The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map of the chromosome. When five kindreds segregating a gene for adenomatous polyposis coli were characterized with a number of the markers, significant linkage was found between one marker and the disease gene. Linkage analysis determined the location of the defective gene within a primary genetic map of chromosome 5.  相似文献   

4.
Genetic investigations of malaria require a genome-wide, high-resolution linkage map of Plasmodium falciparum. A genetic cross was used to construct such a map from 901 markers that fall into 14 inferred linkage groups corresponding to the 14 nuclear chromosomes. Meiotic crossover activity in the genome proved high (17 kilobases per centimorgan) and notably uniform over chromosome length. Gene conversion events and spontaneous microsatellite length changes were evident in the inheritance data. The markers, map, and recombination parameters are facilitating genome sequence assembly, localization of determinants for such traits as virulence and drug resistance, and genetic studies of parasite field populations.  相似文献   

5.
Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy.  相似文献   

6.
There are compelling reasons for choosing to develop the human as the highest-order experimental system in genetics: an obvious social context that stirs interest, wide medical observation of the population that permits identification of an abundance of genetic defects, and our ability to perceive in the human subtle or complex variations that may not be observable in other species. Various lines of genetic inquiry that are based on research in other systems--cytogenetic analysis, biochemical studies, mapping of defective loci by linkage analysis in affected families, and in vitro techniques such as the creation of transgenic organisms--complement and enrich each other. New phenomena that would not have been predicted from investigations in other organisms have been found in humans, such as the discovery of the "giant" Duchenne muscular dystrophy gene and the identification of recessive cancer genes. Genetic research is yielding insights into human biology that are raising new possibilities for therapy and prevention of disease, as well as challenges to society in the form of ethical decisions about the appropriate application of genetic information.  相似文献   

7.
水稻SSR标记遗传连锁图谱着丝粒的整合及其偏分离分析   总被引：5，自引：0，他引：5  
利用珍汕97(Zhenshan 97)和 HR5 衍生的重组自交系(n=190)作为作图群体,构建了水稻SSR标记的全基因组连锁图谱(命名ZHMAP),同时根据前人定位的着丝粒结果和国际水稻测序计划释放的信息,将12条染色体着丝粒的区段也整合到这张遗传图谱上.图谱共包括263个SSR分子标记,图谱总长1 552.6 cM.ZHMAP与多数已发表的图谱相比具有较好的一致性.同时检测到偏分离标记有82个,除第9、第12染色体没有偏分离标记外,其余所有染色体都存在偏分离标记,绝大多数偏分离标记偏向于珍汕97.这些结果有可能为水稻基因组研究工作提供便利和参考.  相似文献   

8.
 【目的】尝试利用分子标记和QTL定位技术直接定位影响重组频率的QTL,探索物种遗传变异难易的分子基础。【方法】分别借助3张玉米和3张水稻分子标记连锁图,以所有染色体上标记的交换次数为性状进行分析。【结果】分别定位了7个和11个影响玉米和水稻重组频率的QTL。以玉米和水稻高密度分子标记连锁图IBM302和Genetic98每条染色体上标记的交换次数为性状,分别在玉米和水稻上定位了12个和57个QTL。【结论】影响重组频率的基因真实存在。培育高重组频率材料将有助于加速基因的定位和克隆、比较图位克隆基因和遗传育种进程。  相似文献   

9.
Based on chicken' consensus map issued in 2000,17 microsatellites near 4 candidate genes such as IGF2,OBR,GDF8 and APOA1 in 4 chromosomes(chromosome 5,7,8 and 24)were chosen for polymorphism analysis and construction of linkage map.Combining the technique of PCR and the fluorescent semi-automated detection,genome scanning was performed for 440 chickens,which was derived from China Agricultural University chicken resource families within three generations.The individuals of this resource families were genotyped.The results showed that the number of alleles ranged from 4 to 14;heterozygosity(H) of markers was between 0.3116 and 0.9148.Polymorphic information content(PIC)varied from 0.2672 to 0.8679.Microsatellites along with above-mentioned 4 candidate genes doing as general markers were used to construct linkage map.The spans of 4 linkage maps constructed in the part region of chromosome 5,7,8 and 24 were 263.5,79.9,206.2 and 104.2 cM,respectively.The order of markers was consistent with that of counterpart of reported consensus map.However,The spans of linkage map were larger than that of consensus map.The constructed linkage maps laid the foundation for mapping quantitative trait loci(QTL)responsible for economically important traits in chicken.  相似文献   

10.
大豆作图群体检验与调整后构建的遗传图谱   总被引：16，自引：1，他引：16  
 应用RFLP、SSR、AFLP对大豆重组近交系群体NJRIKY的 2 0 1个家系进行分析。根据RFLP标记的分析结果 ,通过模拟群体抽样标准法 (SPSC)对试验群体进行了检验与调整。结果表明 ,试验群体偏分离的家系较多 ,且整体偏向于亲本科丰 1号。汰除偏分离家系后 ,群体减少为 184个家系。对 3种分子标记进行连锁分析 ,结果表明 ,RFLP和SSR标记在基因组中的位置相对稳定 ,可以作为锚定标记 ,有利于连锁群的归并和不同图谱的比较整合 ;而AFLP标记容易出现聚集现象 ,从而造成连锁群上出现很大的空隙。以RFLP、SSR和形态等标记构建了包含2 2个连锁群的图谱 ,共 2 5 6个标记 ,总遗传距离为 30 5 0 .9cM。与未调整群体作图结果相比 ,19个标记及 2个连锁群有根本性改变。该图谱为基因定位、比较基因组学和重要农艺性状的QTL定位等研究打下了基础  相似文献   

11.
利用四交群体构建陆地棉栽培品种间的SSR标记遗传图谱   总被引：2，自引：0，他引：2  
作物遗传作图与QTL定位常应用在源于两自交系的单交群体上,是利用2个亲本之间的遗传多态信息;而育种实践中经常用到的四交群体却很少用于遗传作图。本研究将异交物种中F1分离群体的作图方法应用于常异花授粉作物棉花上,以4个陆地棉栽培品种泗棉3号、苏棉12、中4133和8891为亲本,构建陆地棉品种间四交作图群体泗棉3号/苏棉12//中4133/8891,利用JoinMap3.0构建了1张陆地棉栽培品种间的SSR标记遗传图谱。该图谱由56个连锁群组成,总长为2113.3cM,含有286个SSR多态位点,覆盖率达42.3%;单个连锁群的标记数2~24个,平均5.2个;长度为0.37~125cM,平均38.4cM;标记间的平均距离为7.4cM。这是目前报道的第1张覆盖率达40%的陆地棉栽培品种间的分子标记遗传图谱。  相似文献   

12.
The construction of high density genetic linkage map provides a powerful tool to detect and map quantitative trait loci(QTLs) controlling agronomically important traits. In this study, simple sequence repeat(SSR) markers and Illumina 9K i Select single nucleotide polymorphism(SNP) genechip were employed to construct one genetic linkage map of common wheat(Triticum aestivum L.) using 191 recombinant inbred lines(RILs) derived from cross Yu 8679×Jing 411. This map included 1 901 SNP loci and 178 SSR loci, covering 1 659.9 c M and 1 000 marker bins, with an average interval distance of 1.66 c M. A, B and D genomes covered 719.1, 703.5 and 237.3 c M, with an average interval distance of 1.66, 1.45 and 2.9 c M, respectively. Notably, the genetic linkage map covered 20 chromosomes, with the exception of chromosome 5D. Bioinformatics analysis revealed that 1 754(92.27%) of 1 901 mapped SNP loci could be aligned to 1 215 distinct wheat unigenes, among which 1 184(97.4%) were located on o ne single chromosome, and the rest 31(2.6%) were located on 2 to 3 chromosomes. By performing in silico comparison, 214 chromosome deletion bin-mapped expressed sequence tags(ESTs), 1 043 Brachypodium genes and 1 033 rice genes were further added onto the genetic linkage map. This map not only integrated genetic and physical maps, SSR and SNP loci, respectively, but also provided the information of Brachypodium and rice genes corresponding to 1 754 SNP loci. Therefore, it will be a useful tool for comparative genomics analysis, fine mapping of QTL/gene controlling agronomically important traits and marker-assisted selection breeding in wheat.  相似文献   

13.
王怡悦  刘红  徐姚 《南方农业学报》2022,53(10):2701-2713
【目的】构建凡纳滨对虾高密度遗传连锁图谱,并对生长相关性状进行QTL定位,筛选出生长性状相关候选基因,为后续开展凡纳滨对虾分子标记辅助育种、生长相关功能基因精细定位研究等提供理论依据。【方法】以耐低盐选育凡纳滨对虾为父本,厄瓜多尔野生凡纳滨对虾为母本,单尾交配,以2个亲本及150个F1代个体为作图群体,通过2b-RAD测序挖掘SNP分子标记并构建遗传连锁图谱;结合生长性状表型数据,使用MapQTL 6.0在构建的遗传连锁图谱上对体质量、全长、体长、头胸甲长、头胸甲宽、头胸甲高等13个生长相关性状进行QTL定位。筛选QTL区间SNP分子标记附近的基因,经GO功能注释及KEGG信号通路富集分析,挖掘生长相关候选基因;并采用实时荧光定量PCR检测候选基因在凡纳滨对虾不同组织及不同群体间的表达情况。【结果】构建的凡纳滨对虾遗传连锁图谱包括3136个SNPs标记,分布在44个连锁群上;总图谱全长为5430.54 cM,平均图距为1.73 cM。生长性状QTL定位共产生79个生长性状相关QTLs,LOD范围为3.00~11.04,可解释的表型变异范围为9.0%~28.8%。根据GO功能注释及KEGG信号通路富集分析结果,最终筛选出4个生长相关候选基因（TOB2、CRAT、CCT6、KLF4）。4个候选基因在凡纳滨对虾各组织中均普遍表达,且CCT6、KLF4和TOB2基因在耐低盐选育家系群体中的相对表达量均高于常规的凡纳滨对虾群体,其中CCT6基因表达差异达显著水平（P<0.05）。【结论】基于2b-RAD技术构建的凡纳滨对虾遗传连锁图谱鉴定出79个与生长性状相关的QTLs,并筛选出4个与凡纳滨对虾生长性状相关的候选基因（CCT6、KLF4、TOB2和CRAT）。可见,以2b-RAD技术结合QTL定位能高效、快捷挖掘出凡纳滨对虾生长性状相关候选基因,为开展分子标记辅助育种、生长相关功能基因精细定位研究等提供技术支持。  相似文献   

14.
We have found recurrent chromosome breaks at a site (the "fragile site") on the long arm of chromosome 16. This site segregates in simple Mendelian dominant fashion in a large family. The distal portion of the chromosome sometimes shows selective endoreduplication. Preliminary linkage results reveal only 3 recombinants in 33 opportunities for recombination between the fragile site and the alpha locus of haptoglobin, an indication that the alpha-Hp gene is located near this region on chromosome 16.  相似文献   

15.
Trisomy 21 usually results from nondisjunction during meiosis I. In order to determine whether nondisjunction results from failure of normal chromosome pairing or premature unpairing, recombination frequencies were estimated between DNA polymorphic markers on the long arm of chromosome 21 in families containing one individual with trisomy 21. The recombination frequencies on chromosomes 21 that had undergone nondisjunction were then compared to those on chromosomes 21 that had disjoined normally. The data indicate that recombination is reduced between DNA markers on nondisjoined chromosomes 21. These results are consistent with the hypothesis that reduced chiasma formation predisposes to nondisjunction, resulting in trisomy 21 in humans.  相似文献   

16.
A new probe for the diagnosis of myotonic muscular dystrophy   总被引：11，自引：0，他引：11  
Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.  相似文献   

17.
家鸡冠型性状的微卫星标记连锁分析   总被引：1，自引：0，他引：1  
 【目的】构建具有冠型性状记录的鸡F2资源群的2号染色体连锁图谱,并结合表型分析对调控鸡冠型性状的基因进行初步定位。【方法】通过测交选择豆冠冠型基因型纯合的吐鲁番斗公鸡2只和玫瑰冠冠型基因型纯合的玫瑰冠母鸡6只为亲本,采用F2代试验设计建立F2代资源群436只,参考EL（East Lansing）家系的遗传连锁图谱,在鸡2号染色体上筛选14对微卫星标记,运用MapMaker/EXP3.0软件初步构建此家系2号染色体遗传连锁图谱,同时运用LOD记分法进行鸡的冠型基因连锁分析。【结果】经χ2检验,F2资源群冠型分化比例符合经典孟德尔遗传学的独立分离规律。在连锁分析中除MCW0157外,其余13个微卫星标记均能连锁,所构建的鸡2号染色体连锁图谱与EL家系的遗传连锁图谱相似。【结论】鸡2号染色体上MCW0082位点与玫瑰冠冠型基因可能存在连锁。  相似文献   

18.
为挖掘新的抗南方锈病基因资源,本研究以甜玉米组合M5×M114的216个F2单株为遗传作图群体,应用BSA方法从500对SSR引物中筛选出2对在F2代抗病和感病DNA池间具有多态性的引物,分别位于4和9号染色体上;在4和9号染色体上重新设计100对SSR引物,构建了包含33个标记位点总长为241.2cM的连锁遗传图,各个标记间的平均距离为7.53cM。结合F2单株对南方锈病的抗性表现,用复合区间作图法在4和9号染色体上共检测到7个显著的南方锈病抗性QTLs,其中:4个QTLs位于4号染色体上,可解释12.1%、7.8%、18.2%和14.9%表型变异;3个位于9号染色体上,分别解释17.0%、13.3%与19.2%的表型变异。研究结果可为抗南方锈病的精细定位、主效基因克隆和抗南方锈病鲜食甜玉米品种选育提供理论依据。  相似文献   

19.
芸薹属作物分子遗传连锁图谱应用研究进展   总被引：1，自引：0，他引：1  
 从芸薹属作物分子遗传连锁图谱的研究现状出发,综述了分子遗传连锁图谱在芸薹属作物重要农艺性状基因定位和辅助育种、比较作图、基因组结构和起源进化等方面的最新应用进展,对今后的研究方向提出了建议。  相似文献   

20.
为解决传统的图库一体化中制图数据与基础数据分离且格式不统一问题,引入能够表示地理空间对象的空间数据和非空间属性数据GML(地理标识语言)文档,建立图库一体化模型,实现数据统一存储管理和应用。首先将GIS数据作为基础数据建库,制定相应的配图方案形成制图数据,用GML技术将上述基础数据与制图数据即地图配置数据统一存储和管理,建立GML图库一体化模型;然后从GML地理数据库中提取与制图数据有关的信息并分析GML地理要素的属性,从地图符号库中匹配出表示该地理要素的地图符号信息,运用编程语言实现地图配置并保存至GML数据库,实现制图数据与基础数据的一体化存储。以某县级开发区土地利用数据为例对GML数据库的应用进行分析,运用C#编程语言完成土地利用数据的GML存储,采用Arc Engine提供的可视化控件实现GML可视化,通过Arc GIS Engine提供的地图整饰功能进行制图输出,实现图库一体化GML数据的应用。  相似文献   

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