A DNA segment encoding two genes very tightly linked to Huntington's disease

The discovery of D4S10, an anonymous DNA marker genetically linked to Huntington's disease (HD), introduced the capacity for limited presymptomatic diagnosis in this late-onset neurodegenerative disorder and raised the hope of cloning and characterizing the defect based on its chromosomal location. Progress on both fronts has been limited by the absence of additional DNA markers closer to the HD gene. An anonymous DNA locus, D4S43, has now been found that shows extremely tight linkage to HD. Like the disease gene, D4S43 is located in the most distal region of the chromosome 4 short arm, flanked by D4S10 and the telomere. In three extended HD kindreds, D4S43 displays no recombination with HD, placing it within 0 to 1.5 centimorgans of the genetic defect. Expansion of the D4S43 region to include 108 kilobases of cloned DNA has allowed identification of eight restriction fragment length polymorphisms and at least two independent coding segments. In the absence of crossovers, these genes must be considered candidates for the site of the HD defect, although the D4S43 restriction fragment length polymorphisms do not display linkage disequilibrium with the disease gene.     

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.     

Molecular mapping for seedling cold tolerance QTLs in rice

The quantitative trait loci(QTLs)for cold tolerance relative characters were identified with microsatellite markers.Ten QTLs located on chromosome1,3,4,5,6,8,9,11(two)and 12were detected for seedling height at different low temperature.Only 2 of these were detected at the same locus at four environments.1 was significant at three environments.6 were significant at two environments and 1 was significant at one environment.Seven QTLs located on chromosome 1(two),2(two),5,6,8were found for ow temperature chlorosis resistance and five QTLs located on chromosome 3,4,7,8,11resistant to chilling injury.The amount of variation explained by indivdual QTL ranged from 4.85%to 49.34%,There was no linkage relationship among the three characters.which indicates seediling cold tolerance is a complex character and is controlled by different QTLs.     

The genetic linkage map of the human X chromosome

A database useful for mapping the human X chromosome has been established. The data consist of the genotypic characterizations obtained at more than 20 DNA marker loci from a set of 38 selected families. Multilocus linkage analysis has provided an initial genetic map completely spanning the distance from the distal short arm to the distal long arm of the chromosome, for a total genetic length of at least 185 recombination units. Analysis of the recombinational behavior of fully marked chromosomes suggests that the number of recombination events on the X chromosome may be nonrandom. Linkage studies of six families that carry the mutation which causes Duchenne muscular dystrophy were combined with linkage data from a large number of normal families. This permitted mapping of the locus for Duchenne muscular dystrophy with greater precision and statistical confidence than studies in which disease families alone provided the genotypic database. This observation suggests that the normal linkage map of this chromosome should be especially valuable in the mapping of rare X-linked diseases.     

建鲤IGFⅠa基因的SNPs位点筛选及其与增重的相关性分析

机体生长主要受到促生长激素释放激素—生长激素—胰岛素样生长因子(GHRH-GH-IGFs)生长轴调控,类胰岛素生长因子IGFⅠ是生长激素（GH）发挥生物学功能的重要传导因子。实验特异性扩增了建鲤(Cyprinus carpio var. jian) IGFⅠa基因的5个外显子和3个内含子（内含子1、内含子3和内含子4）。通过比对10尾建鲤的序列,共找到SNPs位点8个。使用PCRRFLP方法检测了5个家系共372尾建鲤的内含子1_C175G,12个家系共987尾的内含子1_A993G和内含子4_A511C 3个位点。内含子1_C175G雌雄个体均以GG型频率为最高,分别是0.44和0.43;此位点在幼鱼和成鱼时期与雌、雄建鲤增重均无相关性;内含子1_A993G雌雄个体均以AG型频率最高,分别是0.76和0.72;此位点在成鱼阶段与雄性建鲤增重呈显著相关(P<0.05);内含子4_A511C在雌雄个体中均以CC型频率最高,分别是0.48和0.47;其在幼鱼和成鱼阶段均与增重存在极显著的相关性(P<0.01)。本次试验表明在建鲤体内,IGFⅠ基因在不同生长阶段的表达量不同,且处于同一生长阶段的雌雄个体间的表达也存在差异。内含子1_A993G、内含子4_A511C均与建鲤增重存在相关性,可以考虑作为建鲤分子育种的相关依据。     

甜瓜种子相关性状遗传规律与QTL分析

以遗传性状差异较大的厚皮甜瓜ms-5与薄皮甜瓜HM1-1为亲本配制杂交组合,利用F_2∶3群体对种子相关性状进行主基因+多基因遗传模型分析,确定遗传规律,并构建遗传图谱对种子相关性状进行QTL分析。基因定位结果显示:甜瓜种皮颜色为1对基因控制的质量性状,白色对黄色显性;甜瓜百粒重和种子宽度符合A-1遗传模型,即1对主基因控制的加性-显性效应的数量性状;甜瓜种子长度符合B-1模型,即2对基因控制的加性-显性多基因数量性状。利用F₂群体构建1个含有153个酶切扩增多态性序列(CAPS)标记的遗传连锁图谱,该连锁图谱覆盖总长度为1 104.2 cM,标记间平均遗传距离为7.2 cM。对甜瓜种皮颜色开展初步定位,将控制甜瓜种皮颜色的白色基因(WT)定位在第5连锁群上,两端连锁标记为HD0520和HD0519,与连锁标记的遗传距离分别为13.3 cM和7.0 cM。甜瓜种子百粒重QTL位点位于第6和第11连锁群,sw6.1位于标记E0615和E0618之间,sw11.1位于标记E1113和P1117之间。甜瓜种子长度QTL分布在第7和11连锁群,sl7.1位于标记E0716和HD0713之间,sl11.1和sl11.2分别位于标记E1110、E1112及标记XB1114、E1113之间。甜瓜种子宽度QTL位点位于第2连锁群,位于标记XB0207和E0219之间。研究结果可为甜瓜种子性状的基因精细定位与克隆提供理论依据。     

在两个环境中检测控制水稻抽穗期的QTL

利用一个DH群体研究了控制抽穗期的QTL,实验分别在杭州(HZ)和海南(HN)两地进行,抽穗期分别在4个和3个不同发育阶段调查.结果表明:在2个环境和7个发育阶段中共检测到8个QTL,分别分布在第1,6,8,10,12号染色体上.其中,2个QTL,qHD-1-1和qHD-12能在2个环境中检测到,其它只能在1个环境中检测到.在HN中一个QTL qHD-10-1主要在发芽后75～85 d检测到其效应,它可解释19.6%的变异.在HZ一个主效QTL qHD-8-1在发芽后80～90 d时检测到效应.其它的QTL只在某一阶段表达.最后讨论了抽穗期QTL的作用模式及其在育种中应用.     

水稻重要农艺性状的QTL定位

以东农422与东农427构建的F2 3群体为试材,通过构建其分子标记遗传连锁图,全基因组定位与水稻农艺性状相关的数量性状位点。结果表明,在水稻的12个连锁群上共检测到28个QTLs,在1、4、5、6、7、8、10、11和12号染色体上都有分布,其中主要集中在第6、7号染色体上。共检测到5个控制水稻株高的QTLs,2个控制有效穗数的QTLs,4个控制千粒重的QTLs,6个控制穗长的QTLs,2个控制一次枝梗数的QTLs,9个影响水稻抽穗期的QTLs。由此可知,第6与第7条染色体是控制水稻重要农艺性状的QTLs的分布密集区。     

Glu-1和Glu-3等位变异及1BL/1RS易位与面包和面条品质关系的研究

 高分子量麦谷蛋白亚基（HMW-GS）和低分子量麦谷蛋白亚基（LMW-GS）组成和1BL/1RS易位是决定小麦加工品质的关键因素。将试验Ⅰ80份和试验Ⅱ78份国内外小麦品种分别在2种和4种环境条件下种植，研究了HMW-GS和LMW-GS的组成及1BL/1RS易位对面团流变学特性、面包和面条品质的影响。结果表明，Glu-B1、Glu-D1和Glu-B3位点对面团流变学特性、面包和面条品质的效应较大，而Glu-A3位点的效应较小。单个亚基对面筋强度和面包体积的贡献大小为，在Glu-A1位点，1＞2*＞N；在Glu-B1位点，7+8＞7+9；在Glu-D1位点，5+10＞4+12＞2+12；在Glu-A3位点，Glu-A3d＞Glu-A3c＞Glu-A3a；在Glu-B3位点，Glu-B3d＞Glu-B3f＞Glu-B3b＞Glu-B3j。单个亚基对延伸性和面条评分的贡献大小为，在Glu-A1位点，1＞N；在Glu-B1位点，20＞7+9＞7+8；在Glu-D1位点，4+12＞5+10≥2+12；在Glu-A3位点，Glu-A3c≥Glu-A3d＞Glu-A3a；在Glu-B3位点，Glu-B3b≥Glu-B3f＞Glu-B3d＞Glu-B3j。1BL/1RS易位对面团流变学特性、面包和面条品质皆有极显著的负面影响。     

Cloning of breakpoints of a chromosome translocation identifies the AN2 locus

Chromosome translocations involving 11p13 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2 locus. This locus is also part of the WAGR complex (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation). In one kindred, the translocation is associated with a deletion, and probes for this region were used to identify and clone the breakpoints of the translocation in the second kindred. Comparison of phage restriction maps exclude the presence of any sizable deletion in this case. Sequences at the chromosome 11 breakpoint are conserved in multiple species, suggesting that the translocation falls within the AN2 gene.     

QTLs for Sugar Content of Stalk in Sweet Sorghum (Sorghum bicolor L.Moench)

High sugar content of sorghum stalk is an important factor in the sorghum silage production. To identify the genomic regions controlling sugar content and to develop molecular markers linked to sugar content in sweet sorghum, we used an Early Folger, and a normal inbred line, N32B, for genetic linkage mapping and quantitative trait locus (QTL) analysis. We constructed a genetic linkage map spanning 983.5 cM based on a total of 327 markers comprising 31 restriction fragment length polymorphism (RFLP) markers, 254 amplified fragment length polymorphism (AFLP) markers, and 42 simple sequence repeat (SSR) markers. In the 20 linkage groups detected, 98.2% of markers aligned to the 10 linkage groups of sorghum.Variations in sugar content at different growth stages and among internodes suggested that the sugar content of middle internodes is stable and suitable for measuring at early dough stage. The broad sense heritability (hB2) of sugar content was 0.64 and 0.62 estimated from the data of F3 families and each parent in 2003 and 2004. We identified one and two QTLs accounting for 22.2 to 25.0% of phenotypic variance using simple interval mapping method in 2003 and 2004, respectively.These two QTLs showed a negative additive effect, and over-dominance effect. A QTL on LG-D was detected in both two years. Above results will be help us to understand the genetic mechanism of sugar content in sorghum and the QTL detected in this study might be useful in the improvement of sugar content by marker-assisted selection.     

Susceptibility locus for Alzheimer's disease on chromosome 10

The apolipoprotein E (APOE) gene is the only genetic risk factor that has so far been linked to risk for late-onset Alzheimer's disease (LOAD). However, 50 percent of Alzheimer's disease cases do not carry an APOE4 allele, suggesting that other risk factors must exist. We performed a two-stage genome-wide screen in sibling pairs with LOAD to detect other susceptibility loci. Here we report evidence for an Alzheimer's disease locus on chromosome 10. Our stage one multipoint lod score (logarithm of the odds ratio for linkage/no linkage) of 2.48 (266 sibling pairs) increased to 3.83 in stage 2 (429 sibling pairs) close to D10S1225 (79 centimorgans). This locus modifies risk for Alzheimer's disease independent of APOE genotype.     

牛SLC27A1基因SNPs筛选及其与中国荷斯坦奶牛产奶性状的关联分析

[目的]对牛SLC27A1基因进行SNPs筛选并与中国荷斯坦奶牛的产奶性状进行关联分析,以期发现对中国荷斯坦奶牛产奶性状有显著影响的SNP位点。[方法]根据性能测定记录选取48头中国荷斯坦奶牛,提取血样DNA,组成2个DNA池,用于SNPs筛选,采用PCR-SSCP和克隆测序方法对DNA池进行SLC27A1基因SNPs筛选。针对发现的SNP位点,采用PCR-RFLP方法对另外231头中国荷斯坦奶牛进行群体基因型检测,采用SAS（8.02）GLM过程对各基因型与产奶性状进行关联分析。[结果]在exon3发现T112C位点,在3‘UTR发现G64A位点,T112C为同义突变;经PCR-RFLP检测,发现在T112C位点存在TT、TC、CC3种基因型,G64A位点存在GG、GA、AA3种基因型。2个位点均处于Hardy-Weinberg平衡状态。T112C位点的CC型个体的产奶量极显著高于TC型个体（P〈0.01）,3种基因型对乳蛋白率和乳脂率影响均不显著（P〉0.05）,乳蛋白率呈现CC〉TC〉TT的趋势,乳脂率呈现TT〉TC〉CC的趋势;G64A位点3种基因型对产奶量、乳蛋白率、乳脂率的影响均不显著（P〉0.05）,但产奶量呈现GA〉GG〉AA的趋势,乳蛋白率和乳脂率呈现AA〉GG〉GA的趋势。[结论]该基因T112C位点与产奶量性状有一定的关联性,通过提高CC基因型频率有望提高中国荷斯坦奶牛的产奶量,SLC27A1基因可作为调控中国荷斯坦奶牛产奶量的候选基因,同时为该基因的标记辅助育种和进一步研究奠定了良好基础。     

牛SLC27A1基因SNPs筛选及其与中国荷斯坦奶牛产奶性状的关联分析

[目的]对牛SLC27A1基因进行SNPs筛选并与中国荷斯坦奶牛的产奶性状进行关联分析,以期发现对中国荷斯坦奶牛产奶性状有显著影响的SNP位点。[方法]根据性能测定记录选取48头中国荷斯坦奶牛,提取血样DNA,组成2个DNA池,用于SNPs筛选,采用PCR-SSCP和克隆测序方法对DNA池进行SLC27A1基因SNPs筛选。针对发现的SNP位点,采用PCR-RFLP方法对另外231头中国荷斯坦奶牛进行群体基因型检测,采用SAS（8.02）GLM过程对各基因型与产奶性状进行关联分析。[结果]在exon3发现T112C位点,在3‘UTR发现G64A位点,T112C为同义突变;经PCR-RFLP检测,发现在T112C位点存在TT、TC、CC3种基因型,G64A位点存在GG、GA、AA3种基因型。2个位点均处于Hardy-Weinberg平衡状态。T112C位点的CC型个体的产奶量极显著高于TC型个体（P〈0.01）,3种基因型对乳蛋白率和乳脂率影响均不显著（P〉0.05）,乳蛋白率呈现CC〉TC〉TT的趋势,乳脂率呈现TT〉TC〉CC的趋势;G64A位点3种基因型对产奶量、乳蛋白率、乳脂率的影响均不显著（P〉0.05）,但产奶量呈现GA〉GG〉AA的趋势,乳蛋白率和乳脂率呈现AA〉GG〉GA的趋势。[结论]该基因T112C位点与产奶量性状有一定的关联性,通过提高CC基因型频率有望提高中国荷斯坦奶牛的产奶量,SLC27A1基因可作为调控中国荷斯坦奶牛产奶量的候选基因,同时为该基因的标记辅助育种和进一步研究奠定了良好基础。     

Evidence for genetic linkage of Alzheimer's disease to chromosome 10q

Recent studies suggest that insulin-degrading enzyme (IDE) in neurons and microglia degrades Abeta, the principal component of beta-amyloid and one of the neuropathological hallmarks of Alzheimer's disease (AD). We performed parametric and nonparametric linkage analyses of seven genetic markers on chromosome 10q, six of which map near the IDE gene, in 435 multiplex AD families. These analyses revealed significant evidence of linkage for adjacent markers (D10S1671, D10S583, D10S1710, and D10S566), which was most pronounced in late-onset families. Furthermore, we found evidence for allele-specific association between the putative disease locus and marker D10S583, which has recently been located within 195 kilobases of the IDE gene.     

山西育成小麦品种(系)Glu-1位点的遗传变异

为了了解山西育成小麦品种的品质状况为山西小麦品质育种提供依据,利用十二烷基磺酸钠聚丙烯酰胺凝胶电泳(SDS-PAGE)对山西省87个小麦品种(系)的高分子量谷蛋白亚基组成(HMW-GS)进行了分析。结果共检测到Glu-A1位点编码的HMW-GS有3种类型,分别是Null、1和2*,其中Null出现频率较高(68.97%);Glu-B1位点编码的HMW-GS有7、7+8、7+9、6+8、14+15和17+18共6种类型,其中7+8出现的频率较高为44.83%;Glu-D1位点编码的HMW-GS有2+12、5+10、3+12、4+12、5+12和2+10共6种类型,其中2+12出现的频率最高(44.83%)。共检测到26种HMW-GS组合变异类型,其中Null,7+9,2+12出现频率较高(20.69%)。品质评分发现得分较高的有1,7+9,5+10等组合,它们出现的频率为3.45%。     

The gene for familial polyposis coli maps to the long arm of chromosome 5

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.     

水稻遗传图谱构建及粒形相关性状的QTL定位

[目的]构建水稻遗传连锁图谱,并对水稻粒形相关性状进行QTL分析,为水稻高效育种提供理论依据和育种材料.[方法]对具有极端粒形差异的两份水稻材料K1561和G1025进行杂交、自交获得F2分离群体,通过软件Map-maker/Exp 3.0构建水稻遗传连锁图谱,并利用软件QTLNetwork-2.0对2011年F2群体、2012年F2∶3家系群体的粒形相关性状数据进行相关性状的QTL定位.[结果]两个亲本的粒形性状指标差异明显,以千粒重相差最大;F2、F2∶3两个群体的相关粒形指标基本上呈连续分布状态且分布频率范围广.与F2单株相比,F2∶3家系的千粒重、粒长和粒宽的平均值更偏向于大粒亲本K1561.构建了含161对SSR标记的水稻遗传连锁图谱;共检测到18个粒形相关性状的QTL,分别分布于第1、2、3、7、9和12染色体上.其中,控制千粒重、粒长、粒宽和长宽比的QTL分别有7、5、5和1个,除qGL/GW12外,其他增效等位基因均来源于大粒亲本K1561.两个群体均能检测到的QTL有8个,分别为qTGW3、qTGW7、qTGW9.2、qTGW12、qG L1、qGL9、qGW12和qGL/GW12,其平均加性遗传力为6.04％、12.59％、6.29％、22.08％、4.86％、15.39％、22.12％和10.83％.[结论]定位获得3个效应值较大的新QTL位点qTGW12、qGL9和qGW12,为进一步定位并克隆这些粒形相关基因、阐明水稻产量和品质的控制机理提供了较好的遗传材料.     

黄淮及长江中下游小麦品种HMW-GS等位基因的分布

选取277份来自黄淮、长江中下游地区推广的、育种单位的高代品种(系),以及部分种质资源和国外引进资源,利用SDS-PAGE方法分析了它们的高分子量麦谷蛋白亚基等位基因的组成。结果表明,Glu-A1位点,共检测出1、2*、N三种亚基类型,其中以1亚基的频率最高达到49%,其次为N亚基为44.77%,二者占总品种数的94.22%,2*亚基的频率最小。在Glu-B1位点的等位变异类型最丰富,共检测出8种变异类型,其中以7 9和7 8为最多,分别为38.99%和36.10%,其次为14 15,为12.64%,其它等位亚基所占数目较少。在Glu-D1位点共检测出四种等位类型,其中以2 12亚基类型为最多占44.77%,其次为5 10亚基占33.94%和4 12亚基占19.49%。对各亚基组合的分布,检测出43种组合。其中以N,7 8,2 12在各品种中所占频率为最高,其值为12.64%,其次为N,7 9,2 12,占9.39%;1,7 8,2 12,占7.94%;N,14 15,4 12,占5.42%,其余亚基类型所占比例较低。     

结合基因关联和转录组分析鉴定小麦成株期抗条锈病位点YrZ501-2BL的候选基因

【目的】小麦条锈病是小麦的主要病害之一,每年都会对小麦产量安全造成严重危害,挖掘小麦抗条锈病基因,为小麦抗条锈病种质创新和揭示小麦抗条锈病遗传机制奠定基础。【方法】利用多组学手段结合全基因关联分析（GWAS）开展对小麦成株期抗条锈病性状的解析。首先对411份来自CIMMYT和ICARDA的春小麦进行全基因组关联分析,在小麦2BL染色体上定位到一个主效的成株期抗条锈病位点,并利用含有该位点的抗病材料Z501及感病亲本晋麦79的双亲群体进行连锁作图,成功验证了该位点抗性的稳定性,暂命名为YrZ501-2BL。在此基础上,通过基因注释、比较基因组分析、转录组分析和候选基因的关联分析对目标区间筛选候选基因。【结果】综合GWAS和连锁作图结果,将YrZ501-2BL锁定在小麦2B染色体0.26 Mb(575.706—576.587 Mb)范围内,根据中国春参考基因组注释信息分析,该区间含有12个基因,其中,高可信基因6个;利用在线网站,将目标区间所在的中国春参考基因组与其他已公布的不同倍性小麦基因组进行比较,发现该区间的6个高可信小麦基因基本都能在其他小麦材料中找到同源基因,且基因排列顺序相同,...