Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding

Hemoglobin Gun Hill, a new variant of adult hemoglobin, was found in a Caucasian and one of his three daughters. The abnormal hemoglobin had only half of the expected number of heme groups. Five amino acid residues appeared to be missing from the beta-globin chains. These residues occur in linear sequence in normal beta-chains in a region involved in heme-globin binding. A deletion of five amino acids in the beta-chains of hemoglobin Gun Hill is postulated. The most likely mechanism for the origin of such a hemoglobin variant would appear to be unequal crossing-over during meiosis.     

Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete

A new variant of the normal minor component Hb A(2) has been detected in a family that lives in Sphakiá, Crete. Chemical studies of this abnormal hemoglobin, designated Hb A(2) delta Sphakiá, indicates a substitution of the histidyl residue number two of the delta-chain by an arginyl residue.     

Hemoglobin variants in Koreans: hemoglobin G Taegu

Hemoglobin G Taegu, an electrophoretically slow hemoglobin with a structural anomaly believed to be in the beta-T-3 section of the beta chain, was the only variant found among 6700 normal Koreans. Four subjects, 0.06 percent, had the G-hemoglobin variant in addition to normal hemoglobin A. Hemoglobin E, known in numerous groups from Southeast Asia and the variant most frequently seen in Chinese subjects, was not found among the Koreans we tested.     

Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity

Hemoglobin Rainier, a new hemoglobin variant associated with erythrocytosis, was found in six members of a Caucasiant family. Structurally, it represents substitution of histidine for the invariant residute H23 tyrosine in the beta-hemoglobin polypeptide chain (beta(145) tyrosine --> histidine). Hemoglobin Rainier is the first example of a single amino acid substitution in adult human hemoglobin, causing increased resistance to alkali denaturation.     

等电聚焦凝胶电泳检测5个大豆杂交组合中脂肪氧化酶的缺失突变

[目的]为大豆的分子标记辅助育种提供理论依据。[方法]应用改进的等电聚焦凝胶电泳(IEF-PAGE)技术,对由不同脂肪氧化酶(Loxs)缺失类型亲本配置的5个大豆杂交组合F2代进行逐粒检测,鉴定其Loxs缺失类型。[结果]杂交组合0129和0124为一类,其F2代有4种表现型(-Lox2-、Lox1Lox2、-Lox2Lox3和-Lox1Lox2Lox3);0139和0155为一类,F2代有6种表现型,分别为-Lox2、-Lox3、-Lox2Lox3、N(正常)、H(Lox2杂合)和H-Lox3(Lox2杂合且Lox3缺失);0134单独为一类,F2代仅3种表现型,分别为-Lox2、N和H。Lx3/Lx1和lx3/lx1为显隐性等位基因,Lx2/lx2为共显性等位基因。[结论]杂合基因型在蛋白水平上的特异表达为筛选优异的种质资源提供了一种辅助手段。     

Pi9基因标记辅助选择改良水稻不育系金23A稻瘟病抗性

以携带广谱持久的抗稻瘟病基因Pi9的籼稻品系75–1–127为供体亲本，以保持系金23B及其不育系金23A为受体亲本，采用Pi9基因共显性标记CoInDF1R2进行MAS回交育种，以改良三系不育系金23A及其保持系金23B的稻瘟病抗性；用25份稻瘟菌代表性菌株进行室内苗瘟接种，观察苗瘟抗性表现。结果显示：金23A和金23B的抗性频率仅为28%，而75–1–127的抗性频率为92%；田间病圃抗性鉴定结果显示，75–1–127高抗苗瘟，而金23A和金23B受体亲本均高感苗瘟；共显性标记CoInDF1R2在75–1–127 基因组上扩增出大小为354 bp的PCR产物，对金 23A或金23B基因组的扩增产物大小约470 bp，说明该标记在2个亲本间的多态性明显且稳定；利用CoInDF1R2开展连续多年MAS回交育种实践，培育出了农艺性状优良、丰产性较好的抗病不育系金23A–Pi9–1及抗病保持系金23B–Pi9–1，为三系法杂种优势利用提供了新的抗稻瘟病亲本材料。     

PRRSV变异株与普通株二重RT-PCR鉴别方法的建立与应用

参考GenBank发表的猪繁殖与呼吸综合征病毒(PRRSV)的nsp2基因序列,在nsp2大缺失区下游的保守区设计了1条下游引物,在小缺失区设计1条上游引物,用于变异株的扩增。在大缺失区内部设计1条上游引物,与变异株共用下游引物,用于普通株的扩增,建立了PRRSV变异株与普通株二重RT-PCR鉴别方法。建立的RT-PCR方法用于临床病料的检测,部分阳性结果测序,变异株序列与报道的序列同源性在97%以上。结果表明,该方法特异、快速、简便,可以用于PRRSV变异株和普通株的鉴别。     

公猪精液PRRSV变异株检测及NSP2、ORF5基因序列分析

用荧光RT-PCR方法从某猪场精液中检测到猪繁殖与呼吸综合征病毒(Porcine reproductive and respiratory syndrome virus,PRRSV)变异株(NSP2 1 594～1 680 bp缺失)核酸阳性.提取1份阳性样品病毒核酸测定和分析其NSP2和OBF5全基因序列,结果表明NSP2基因由950个氨基酸组成,与CH-1a、VR-2332等经典PRRSV相比481位缺失1个氨基酸、532～560位连续缺失29个氨基酸,与JXA1、HUN4等毒株具有相同的缺失特性;ORF5基因第13、151位为具有强毒特性的精氨酸(R),存在4个潜在的糖基化位点,分别位于30～32、35～37、44～46和51～53位氨基酸.遗传进化分析表明,测定序列与JX-A1、HUN4等毒株关系最近,与CH-1a、NVSL等同属一个大分支,而与BJ-4、P129、RespPRRS MLV、VR-2332等处于不同分支.研究证实公猪精液可携带PRRSV变异株,因此猪场(群)在人工授精和引进精液时必须强化检疫和生物安全措施.     

Hemoglobin Hijiyama: a new fast-moving hemoglobin in a Japanese family

A variant of hemoglobin A, named Hb Hijiyama, found in two generations of a Japanese family living in Hiroshima, Japan, has a higher anodal electrophoretic mobility than hemoglobin A; a gain of two negative charges per molecule is indicated. Fingerprinting and amino acid analysis showed the biochemical anomaly to be in the beta chain at residue 120, where lysine is replaced by glutamic acid. In the heterozygote carriers of the abnormal hemoglobin there is no apparent association with clinical or hematologic abnormalities.     

茎瘤芥(榨菜)数量性状遗传差异研究

对23份茎瘤芥品种资源的15个数量性状进行了主成分分析和聚类分析。结果表明:前5个主成分对变异的贡献率达85.32%,并筛选出6份综合性状表现优良的品种资源。23份品种资源被分为五类,配制组合宜在类间(D2>257.9)选择亲本。遗传差异的大小与品种的地理分布和熟性无直接联系。     

新疆猪繁殖与呼吸综合征病毒分离鉴定及Nsp2和ORF5基因遗传变异分析

为探索新疆猪繁殖与呼吸综合征病毒（PRRSV）的变异特征,利用RT-PCR、ORF5 和部分NSP2 基因序列进行分析,鉴定从新疆某猪场疑似猪高热病死亡猪肺脏分离出的一株病毒。分离的病毒株被鉴定为PRRSV 美洲型,命名为XJ-Q 株。该株病毒与香港分离株HK13 亲缘关系最近,与国内变异株（HUB1 和JXA1）同源性较为亲近。与美洲型标准毒株VR-2332 相比,该分离株在481 位和532~560 位共有30 个氨基酸缺失;与国内分离的PRRSV 变异株相比,在487~489 位有3 个氨基酸的独特缺失。结果表明,新疆分离株为PRRSV 美洲型,属于新缺失的PRRSV毒株。     

新疆猪繁殖与呼吸综合征病毒分离鉴定及Nsp2和ORF5基因遗传变异分析

为探索新疆猪繁殖与呼吸综合征病毒(PRRSV)的变异特征,利用RT-PCR、ORF5和部分NSP2基因序列进行分析,鉴定从新疆某猪场疑似猪高热病死亡猪肺脏分离出的一株病毒.分离的病毒株被鉴定为PRRSV美洲型,命名为XJ-Q株.该株病毒与香港分离株HK13亲缘关系最近,与国内变异株(HUB1和JXA1)同源性较为亲近.与美洲型标准毒株VR-2332相比,该分离株在481位和532～560位共有30个氨基酸缺失;与国内分离的PRRSV变异株相比,在487～489位有3个氨基酸的独特缺失.结果表明,新疆分离株为PRRSV美洲型,属于新缺失的PRRSV毒株.     

Specific chromosome defect associated with human small-cell lung cancer; deletion 3p(14-23)

A specific, acquired chromosomal abnormality (deletion 3p) has been found in at least one chromosome 3 in 100 percent of the metaphases in 12 of 12 cell lines cultured from human small-cell lung cancer tissue and in 2-day tumor culture specimens from three patients. Analysis of the shortest region of overlap shows the deletion to be 3p(14-23). This specific change was not seen in five of five lung cancer cell lines other than small-cell lung cancer or in two lymphoblastoid lines cultured from cells of small-cell lung cancer patients whose tumors had the 3p deletion.     

云纹石斑鱼和赤点石斑鱼杂交子一代线粒体相关基因的母性遗传特征分析

对云纹石斑鱼和赤点石斑鱼及其正反杂交子代的3种线粒体基因(COⅠ、16S rDNA、Cyt b)和核基因Tmo-4c4进行序列分析,其中16S rDNA序列中有明显的插入缺失位点,而其他3个基因序列无插入缺失变异。在12个分析样本中,COⅠ同源序列(387 bp)中共检测到41个核苷酸多态性位点,16S rDNA(529 bp)中有21个核苷酸多态位点,Cyt b(383bp)中有49个核苷酸多态位点。Tmo-4c4(467 bp)有8个核苷酸多态位点。序列差异分析和遗传距离比较结果显示,正反杂交子一代的3个线粒体基因序列与母本基因序列的同源性都为100%,与父本的基因序列同源性分别为COⅠ:90%和89.4%;16S rDNA:96%和96%;Cyt b:87%和87.2%。核基因Tmo-4c4正反交子一代与母本的序列同源性为98.9%~99.6%之间,与父本的同源性为98.7%~99.4%之间,没有明显的遗传差异。以上结果表明了云纹石斑鱼和赤点石斑鱼杂交子一代在3种线粒体基因上严格按照母性遗传的规律,而核基因Tmo-4c4没有明显的遗传偏向性。     

Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor

The insulin receptor has an intrinsic tyrosine kinase activity that is essential for signal transduction. A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. Insulin binding to the erythrocytes or cultured fibroblasts from this individual was normal. However receptor autophosphorylation and tyrosine kinase activity toward an exogenous substrate were reduced in partially purified insulin receptors from the proband's lymphocytes that had been transformed by Epstein-Barr virus. The insulin resistance associated with this mutated gene was inherited by the proband from her mother as an apparently autosomal dominant trait. Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes.     

Single chain alkali resistance in hemoglobin Rainier: beta 145 tyrosine-histidine

The mechanism of alkali resistance in hemoglobin Rainier, an adult human hemoglobin variant (beta 145 tyrosinie --> histidinie), has been investigated. Alkali denaturation kinetics, electrophoretic and hybridization study. and ultracentrifuge analysis provided evidence for a monomeric beta Rainiier chain resisting denaturation at alkaline pH. These data provide evidence for a previously unrecognized effect of a single amino acid substitution, that is, the change of the alkali denaturation properties of monomneric chains.     

6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia

In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.     

野生稻DNA片段存在于高世代水稻变异系进一步的分子验证

【目的】小粒野生稻(O. minuta) DNA导入水稻保持系V20B，第1代（D1）获得变异株,经过连续16代繁育，选出了完全稳定遗传的新不育系及其保持系“野威A”/“野威B”。本试验旨在从分子水平上证明野生稻DNA转移整合进栽培稻“野威B”基因组中，并能稳定遗传。【方法】通过RAPD分析、RAPD扩增特异条带测序分析及AFLP分析等方法揭示了远缘资源基因组DNA导入栽培稻的高世代变异系的基因组整合了远缘基因组片段。【结果】对供体（小粒野生稻）、变异系（野威B）和受体（V20B）进行RAPD分析发现，变异系含有供体存在而受体不存在的“特异带”，在此基础上，对“特异带”，DNA片段进行了核苷酸序列分析, 发现RAPD引物OPG-11在变异系与供体中扩增出的1对“特异带”DNA片段的长度均为975 bp, 二者间存在97%的同源性，有29个碱基的差异，碱基突变包括转换、颠换、插入及缺失4种类型；同时，AFLP分析表明：高世代（第16代）变异系“野威B”与受体（V20B）存在大量遗传多态性，并含有供体特异AFLP标记。【结论】证明了野生稻DNA向栽培稻的转移整合。     

T5代水稻变异株系的AFLP分析和特异片段序列分析

以香稻1号为材料,对64对PstⅠ-MseⅠ选扩引物进行筛选,确定19对引物能扩增出适量且清晰的条带。以19对引物对具有不同表型性状的4种T5代变异株系及其对照进行AFLP分析,结果表明,变异株系基因组较香稻1号发生了明显变化。回收克隆了变异株06-5-114-11-2的p38-114特异片段和06-5-108-11-3的p82-108特异片段,并在NCBI数据库中进行序列比对,结果显示,p38-114片段与序号为NM_001074855.1的mRNA序列相似性为99%,p82-108片段与序号为NM_001061652.1的mRNA序列相似性为100%。     

小麦新品种周麦23号的遗传构成分析及其特异引物筛选

【目的】探讨亲本对黄淮麦区小麦新品种周麦23号的遗传贡献和周麦23号的遗传构成并筛选出其特异引物,用于检测周麦23号的品种真实性。【方法】利用覆盖小麦21条染色体的340个SSR标记对周麦23号及其亲本周麦13号、新麦9号进行简单重复序列（SSR）标记分析,解析亲本的遗传物质在周麦23号中传递频率和遗传贡献率。同时可以筛选到若干个周麦23号不同于任一亲本的引物,利用周麦23号的姊妹系、衍生品种对这些特异标记进行二次筛选,最终选择1－2个周麦23号的特异引物,并利用黄淮麦区的主推品种周麦22号、济麦22、矮抗58、郑麦366等14份材料对最终筛选的特异引物进行验证。【结果】双亲周麦13号和新麦9号对周麦23号的遗传贡献差异较大,周麦13号对周麦23号的遗传贡献率为63.04%,远高于新麦9号对周麦23号的遗传贡献率（36.96%）。双亲遗传物质在周麦23号的选育过程中发生了偏分离现象。在不同基因组和染色体水平上,亲本对周麦23号的遗传贡献率变化较大,母本周麦13号对周麦23号的遗传贡献率范围分别在23.1%（1B）-100% （4A、6A、3B、4B、6B、4D）;父本新麦9号对周麦23号的遗传贡献率范围在0（4A、6A、3B、4B、6B、4D）-76.9%（1B）。从147个多态性标记中鉴定出周麦23号的7个特异位点,即Xwmc344、Xbarc84、Xwmc326、Xwmc468、Xwmc479、Xgwm428和Xcwm65。通过二次筛选得到1个周麦23号的特异引物Xcwm65,可用于鉴定周麦23号与黄淮麦区小麦品种的特异性,同时可以用于区分周麦23号的部分姊妹系（除A4、A5和A6以外）及其大部分衍生品种（除B7、B8和B12以外）。【结论】明确了2个亲本对周麦23号的遗传贡献率,掌握了周麦23号的遗传构成并绘制了基因型图,同时筛选出1个周麦23号的特异引物Xcwm65,可用于鉴定周麦23号的真实性。