Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

Of 126 families referred for counselling of Duchenne muscular dystrophy (DMD), DNA analysis has been suggested to 119 families with at least one affected child or with an affected close male relative of the woman at risk of being a DMD carrier. A large proportion (about 80 per cent) of the families were represented by sporadic cases (only one affected individual). By means of multiplex polymerase chain reactions with different sets of oligoprimers providing amplification of 10–11 different exons, altogether 49 dystrophin gene deletions were identified (41 per cent). Eighteen deletions clustered in the 5′ ‘hot spot’ region of DMD cDNA and 36 in the distal half of the central rod domain around exons 43–53. An unusually high frequency (18 per cent) of deletions involving exons 17–19 was discovered. Large deletions extending through both ‘hot spot’ regions and thus occupying over 30–40 exons were recorded in five cases (10 per cent). Seventy-six of 94 families were found to be informative by RFLP analysis for intragenic or extragenetic DNA probes. Carrier status was ascertained in 20 and rejected in 32 female relatives in 40 DMD families. Eight DMD-affected fetuses were diagnosed prenatally by direct deletion testing or by RFLP analysis. Feasible interpopulation variations in the dystrophin gene deletion pattern are discussed. The prospects for more effective prenatal diagnosis and carrier detection in high-risk DMD families in Russia are briefly outlined.     

利用RFLP分析DO对附积床系统中AOB群落结构的影响

为了解析DO浓度对附积床反应器脱氮系统中COD、NH4+-N、TN去除效率的影响,以及对氨氧化菌群(AOB)结构及多样性的影响,分析了DO分别为1.0~2.0,2.0~3.0,3.0~4.0mg/L时COD、NH4+-N、TN去除效率,并采用针对AOB功能基因氨单加氧酶(amoA)的限制性内切酶片段长度多态性技术(RFLP)分析了三组DO浓度下反应器中AOB的群落结构及多样性.结果表明,不同DO条件下,系统均取得较高的COD和NH4+-N的去除效果, NH4+-N的去除效率随着DO的增加而提高.不同DO浓度下反应器生物膜上AOB菌群多样性丰富,且与DO对AOB菌群的多样性影响较小相比,DO对AOB的菌群结构及种类的影响较大.     

潍坊、花园口土样中土著大豆根瘤菌的遗传多样性研究

采用１６Ｓ－２３Ｓ ｒＤＮＡ间隔区段（ＩＧＳ）ＲＦＬＰ分析和ＰＡＰＤ分析技术,分别对分离自山东潍坊和河南郑州花园口的２４株土著大豆根瘤菌进行２多样性分析。结果一 ７０％的相似性水平上,依ＩＧＳ－ＲＦＬＰ分析可将供试菌株分为１０群,依ＲＡＰＤ分析可将供试菌株分为８群。综合两种分析技术在５０５的相似性水平上将供试菌株分为潍坊群和花园口群。 在系统发育和分子进行上有明显的地理分隔作用。     

籼粳杂种不育突变体91FS育性特征和RAPD及RFLP分析

91FS是一个稳定遗传的籼粳杂种水稻新型不育突变体,育性特征表现为,雌雄配子和受精过程正常,约25%的受精卵发育成胚,约75%的受精卵终止发育,与91FS群体约25%的结实率吻合,而且六代保持不变;91FS的RAPD和RFLP的谱带六代保持稳定和一致,与91FS的杂种性状和育性表达的稳定性也是吻合的;91FS与籼粳杂种可育材料91FM和以91FS为父本的杂交F     

慢生型大豆根瘤菌的遗传多样性研究

采用选择性扩增片断长度多态性 (简称AFLP)DNA指纹技术对来自泰国北部的 2 45株慢生型大豆根瘤菌进行遗传多样性的研究 .通过AFLP图谱揭示出该地区的慢生型大豆根瘤菌有较显著的遗传多样性 .从 2 45株中选择出 92个代表株用计算机进行的树状图分析结果表明 ,所分析的菌株在 82 %的相似性水平上聚类成 8个群 .对这 92个代表株的部分菌株和慢生型大豆根瘤菌的参比菌株进行多聚酶链反应 (PCR)扩增的 16SrDNA的 4种限制性内切酶长度多态 (简称 16SrDNAPCR RFLP)分析 ,得出 2个不同的 16SrDNAPCR RFLP类型的菌株 ,分别与慢生型大豆根瘤菌的参比菌株Bradyrhizobiumjaponicum和Bradyrhizobiumelkanii相同 .图 1表 2参 14     

生活垃圾厌氧堆肥产甲烷及古细菌多样性分析

通过厌氧堆肥试验,对厌氧堆肥产甲烷的基本特征进行了研究,结果表明:在厌氧堆肥开始阶段,气体中只有8%的甲烷,二氧化碳产率是甲烷产率的4倍左右;而随着反应的进行,二氧化碳产率呈下降趋势,甲烷产率逐渐升高,并于3个月时达到最高值45%;此后二氧化碳及甲烷产率都逐渐降低。对3个月时的垃圾堆肥渗出液取样,提取总DNA,对古细菌片段进行限制性片段长度多样性分析(RFLP),在60个随机选出的古细菌rDNA克隆子中,可以划分15个不同的谱型。对深入了解产甲烷厌氧微生物过程,加快垃圾稳定化具有重要意义。     

Task specialization in a wild bee,Apis florea (Hymenoptera: Apidae), revealed by RFLP banding

Workers in a wild in situ colony of the dwarf honey bee, Apis florea, were observed undertaking the following behavior: liquid foraging, pollen foraging, guarding, stinging, fanning and wagging abdomen. Bees of each behavioral class were separately collected and frozen. Collections were made over a period of 10 days. Random samples of brood and workers were also collected. DNA was extracted from each bee and fingerprinted using a probe of unknown sequence obtained from an A. mellifera genomic library. Patterns of fingerprints (Fig. 1) were dissimilar among behavioral classes (Tables 1 and 2), strongly suggesting a genetic component to division of labor in this species. This result supports similar findings in A. mellifera in a species that is not troubled by many of the experimental difficulties inherent in A. mellifera. Correspondence to: B.P. Oldroyd     

Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.

From a total of 490 cystic fibrosis (CF) high-risk families under supervision (mostly Russian Slavs from the European part of the country), DNA data including both direct screening for some CF gene(CFTR)mutations(deIF508, G551D and 1677delTA) and allelic polymorphism studies with tightly CF linked DNA markers were collected from 261 families. All full families (129) and 86 CF families with a deceased index child were found to be either fully (42 per cent) or partially (40 per cent) informative for DNA analysis. Prenatal diagnosis (PD) was carried out in 161 CF families. Microvillar enzyme (MVE) assay was applied to all 140 PD at the second trimester either as a single test (88) or in conjunction with DNA analysis (52). The frequency of false-negative results of the MVE assay was 1.3 percent and that of false-positive results, as judged by the albumin meconium test, was 5.0 per cent. Ambiguous results of MVE analysis were found in 30 cases, 12 of which were verified by DNA analysis. Molecular diagnosis of CF at the first trimester was carried out in 21 cases and four pregnancies were terminated. Altogether, 39 pregnancies with a predicted high risk of CF fetuses were terminated. The low average frequency of delF508 in CF chromosomes of Russian Slavs (50 per cent), its remarkable inter-population variation, and the significant proportion of at-risk families without an affected child determine the necessity of combined molecular and biochemical (MVE assay) approaches for efficient prenatal diagnosis of CF in the former U.S.S.R.     

饮用水处理中不同来源生物活性炭微生物群落多样性和结构研究

通过限制性片段长度多态性技术考察了饮用水深度处理中5种不同来源生物活性炭的微生物群落多样性和结构.单宁酸与腐殖酸吸附值相对较高的A炭、B炭和C炭的多样性指数较为接近,其微生物多样性更为丰富,而单宁酸与腐殖酸吸附值相对较低的D炭、E炭多样性指数较低.生物活性炭样品的系统发育树中包含β-Proteobacteria、α-Proteobacteria、Planctomycetes、γ-Proteobacteria、Bacteroidetes等5类种群.其中β-Proteobacteria和α-Proteobacteria是微生物群落的优势种群,对水中有机物的去除起到重要的作用.Planctomycetes、γ-Proteobacteria和Bacteroidetes是微生物群落的非优势种群.Bacteroidetes出现在A炭、B炭、C炭和D炭中,而没有出现在E炭中.研究结果进一步加深了对生物活性炭中微生物群落的认识,为确保饮用水质安全提供理论基础.     

Microbial communities in acid water environments of two mines, China

To understand the compositions and structures of microbial communities in different acid-aqueous environments, a PCR-based cloning approach was used. A total of five samples were collected from two mines in China. Two samples, named as G1 and G2, were acid mine drainage (AMD) samples and from Yunfu sulfide mine in Guangdong province, China. The rest of the three samples named as D1, DY and D3, were from three sites undertaking bioleaching in Yinshan lead-zinc mine in Jiangxi province, China. Phylogenetic analysis revealed that bacteria in the five samples fell into six putative divisions, which were α-Proteobacteria, β-Proteobacteria, γ-Proteobacteria, Firmicutes, Actinobacteria and Nitrospira. Archaea was only detected in the three samples from Yinshan lead-zinc mine, which fell into two phylogenentic divisions, Thermoplsma and Ferroplasma. In addition, the results of principal component analysis (PCA) suggested that more similar the geochemical properties in samples were, more similar microbial community structures in samples were.