A novel L1CAM mutation with L1 spectrum disorders

X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases

Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation. X-linked hydrocephalus is known to be due to mutations in the gene coding for the neural cell adhesion molecule L1 (L1-CAM) and diagnosis is made by identification of a mutation in the L1-CAM gene. Prenatal diagnosis of HSAS is usually suggested on ultrasound examination showing hydrocephalus in a male fetus associated with bilateral adducted thumbs. Mutation screening of the L1-CAM gene is indicated when neuropathological examination shows hypoplasia of the corticospinal tract associated with aqueductal stenosis. We report here two cases of HSAS diagnosed within the same family by ultrasound examination in the first trimester of pregnancy when bilateral adducted thumbs were the only early ultrasound marker. Copyright © 2001 John Wiley & Sons, Ltd.     

浅层地下水升降对菜地土壤剖面硝化/反硝化微生物丰度的影响

为揭示湖泊近岸浅层地下水升降对菜地土壤剖面硝化与反硝化功能微生物基因丰度的影响,以洱海湖滨带菜地土壤剖面为研究对象,通过模拟地下水升降过程,分析了水位升高(S1)、水位降低(S2)及落干(S3)过程中土壤剖面AOA-amoA、AOB-amoA、nirK、nirS、nosZ基因丰度的变化特征,探讨了功能基因与土壤环境因子的耦合关系.结果表明:S3阶段的土壤剖面AOA-amoA和AOB-amoA基因丰度显著高于S1和S2;S1阶段的土壤剖面nirK、nirS、nosZ基因丰度均显著高于S2和S3.AOA-amoA基因丰度显著高于AOB-amoA基因丰度,nirS基因丰度显著高于nirK、nosZ基因丰度;不同取样时期的土壤剖面AOA-amoA、AOB-amoA、nirK、nirS、nosZ基因丰度均表现为A层B层C层D层.水位升降对土壤剖面AOA-amoA、AOB-amoA、nirK、nirS、nosZ基因丰度有显著影响,且AOA-amoA和nirS基因对水位升降更敏感,分别在硝化与反硝化作用中占主导地位;pH、有机碳(SOC)、全氮(TN)为功能基因AOA-amoA、AOB-amoA的环境驱动因子,而功能基因nirK、nirS、nosZ的环境驱动因子为土壤含水量(W)、铵态氮(NH~+_4-N)、硝态氮(NO~-_3-N)、TN、SOC、pH.该研究结果可为揭示浅层地下水升降过程中菜地土壤剖面氮素循环的微生物学机制提供科学依据.     

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H-SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H-SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.     

Prenatal diagnosis of Pfeiffer syndrome type II

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history. Copyright © 2004 John Wiley & Sons, Ltd.     

空调冷却塔水与空气军团菌的PCR方法快速检测

应用 Enviro Amp PCR-反向杂交法(涉及 5S rRNA基因和 mip基因 )和半巢式 PCR(涉及 16S rRNA基因 )成功检测人工气溶胶化的军团菌 ,这些方法进一步用于检测空调系统冷却塔的水及由其产生的气溶胶中的军团菌 ,从空气样品中检测到军团菌属及嗜肺军团菌 .检测的冷却塔水样品 100%含军团菌属细菌 ,其中 41.6%含嗜肺军团菌 .2种方法相比 ,半巢式 PCR法更经济、方便 .     

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis

The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. The MYH3 variants are associated with distal arthrogryposis type 2A (Freeman-Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon-Hall syndrome), CPSFS1A (Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A) and CPSFS1B, which have some shared characteristics and great variability of clinical phenotypes. In this study, we report two novel MYH3 missense variants c.1024T>G (p.Phe342Val) and c.3872A>C (p.Gln1291Pro), demonstrating different phenotypes in the prenatal setting. This study expands the spectrum of MYH3 variants and supports the domain-specific genotype-phenotype correlation of MYH3.     

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus,caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene

We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.1018 T> C mutations, two heterozygous insertion mutations g.799_g.800insC and one heterozygous insertion mutation g.849_g.850insT were found among 100 normal controls. Careful radiological examination of the fetus for skeletal dysplasia allowed definitive diagnosis, proper genetic counselling and future prenatal diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

气水比对A/O-BF处理低碳氮比农村生活污水脱氮的影响

为揭示好氧段气水比对缺氧/好氧生物滤池(Anoxic/Oxic Biofilter,A/O-BF)脱氮的影响机理,采用A/O-BF处理低碳氮比农村生活污水,结合实时荧光定量聚合酶链式反应技术,对比研究了好氧段气水比为4∶1、2∶1和1∶1时A/O-BF的脱氮效能和微生物群落变化特征.结果表明:当气水比为4∶1时,A/O...     

若尔盖花湖沉积物氨氧化与反硝化功能基因丰度垂向分布特征及其环境响应

若尔盖湿地作为中国最大的泥炭沼泽区,是生物地球化学循环的重要场所.本文以若尔盖湿地的花湖为研究对象,采集0～47 cm的沉积物样品,通过实时荧光定量PCR(qPCR)技术,探究沉积物中氨氧化(amoA)和反硝化(nirS、nirK、nosZ clade I)功能基因丰度的垂向分布特征,及其对环境因子的响应.结果表明:花湖沉积物中古菌amoA基因丰度在垂向分布上呈下降趋势,而nirS基因丰度呈上升趋势;古菌和细菌的amoA基因丰度相近,nirS基因丰度则远高于nirK基因,且氨氧化功能基因丰度整体上比反硝化功能基因低1～2个数量级.总氮(TN)、总磷(TP)、氨态氮(NH~+_4-N)、硝态氮(NO~-_3-N)和亚硝态氮(NO~-_2-N)与古菌amoA基因丰度均呈显著正相关关系(p0.05),而与nirS基因丰度呈显著负相关关系(p0.05).这两种功能基因明显受到花湖沉积物中不同形式氮素浓度的影响与限制.通过研究花湖沉积物氨氧化与反硝化功能基因的垂向分布特征及其对环境的响应,可为深入了解高原湖泊沉积物中的氮循环机理提供参考.     

降解1,2,4-三氯苯的硝基还原假单胞菌J5-1的分离鉴定和邻苯二酚1,2-双加氧酶基因的克隆

从受氯苯污染的土壤中分离到1株以1,2,4-三氯苯为唯一碳源生长的细菌,命名为J5-1.根据其生理生化特征和16S rDNA(GenBank Accession No.EF107515)序列相似性分析,将该菌株初步鉴定为硝基还原假单胞菌(Pseudomonas nitroreducens).当1,2,4-三氯苯初始浓度为400 mg/L时,J5-1对其最大降解率接近90%;当1,2,4-三氯苯浓度初始为20 mg/L时,降解效果最好.J5-1对1,2,4-TCB的降解服从一级反应动力学.从J5-1的基因组DNA中克隆到CC120的全长序列.     

植被恢复对刺萼龙葵根际土壤细菌群落结构与功能的影响

入侵植物可以改变入侵地土壤微生物群落,从而有助于其入侵,在前期研究中发现,植被恢复措施可有效控制刺萼龙葵（Solanum rostratum）的入侵,但植被恢复前后刺萼龙葵根际土壤细菌群落结构与功能尚未清楚.选取了前期研究中的2个植被组合：沙打旺（Astragalus adsurgens）+披碱草（Elymus dahuricus）+无芒雀麦（Bromus inermis）（T1）;沙打旺+苇状羊茅（Festuca arundinacea）+冰草（Agropyron cristatum）+羊草（Leymus chinensis）（T2）,并选取刺萼龙葵（SR）及本地植被（NR）作为对照,采用16S rDNA MiSeq高通量测序技术研究刺萼龙葵入侵及植被恢复后刺萼龙葵根际细菌群落组成,同时采用PICRUSt功能预测分析其功能.结果表明,刺萼龙葵入侵（SR）后Simpson指数和Chao1指数均高于本地植被（NP）,但未达到显著水平,而植被恢复（T1和T2）后,Shannon指数和Chao1指数显著降低（P<0.05）.刺萼龙葵（SR）显著降低了变形菌门（Proteobacteria）中的微枝形杆菌属（Microvirga）、斯科曼氏菌属（Skermanella）、鞘氨醇单胞菌属（Sphingomonas）及酸杆菌门（Acidobacteria）的Bryobacter属相对丰度（P<0.05）,而植被恢复后,这些菌属丰度也随之上升.RDA分析结果显示,土壤有机质、总氮、总磷、总钾和速效钾是影响细菌群落组成的重要因素.PICRUSt功能预测分析表明,刺萼龙葵入侵显著提高了氨基酸合成（biosynthesis of amino acids）、嘌呤代谢（purine metabolism）、嘧啶代谢（pyrimidine metabolism）、核糖体（ribosome）和氨酰-tRNA合成（aminoacyl-tRNA biosynthesis）等方面的功能,而植被恢复以后其相对丰度显著降低.本文探讨了刺萼龙葵入侵及植被恢复后根际细菌群落和功能,为刺萼龙葵的入侵机制及生态恢复提供理论依据.     

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

秸秆发酵乳酸菌复合系SFC-2的构建及其组成多样性研究

为了获得促进作物干秸秆乳酸发酵的微生物,以玉米秸秆和水稻秸秆的自然发酵物为菌种来源,用MRS蔗糖培养基,通过连续定向继代培养,筛选出pH下降迅速、乳酸含量高、组成稳定的乳酸菌复合系SFC-2.DGGE分析表明,SFC-2经过连续继代培养,从第25代开始其微生物组成基本稳定.SFC-2 培养12 h后pH下降至3.8,乳酸含量达10.64 mg/mL,其中64%为L-(+) 乳酸.通过平板分离获得4株细菌,全部为Lactobacillus,其近缘种分别为L. fermentum、L. plantarum、L. paracasei和L. paracasei sub sp.;通过16S rDNA克隆文库分析获得7个克隆,其近缘种主要为L. fermentum、L. plantarum及L.paracasei;在16S rDNA的克隆文库中,76.3%为L. fermentum的近缘种,20.3%为L. plantarum的近缘种,3.4%为L. paracasei的近缘种.     

Alcaligenes sp.S-XJ-1利用废弃柴油合成生物破乳剂的研究

生物破乳剂是一种用于油水分离的新型破乳剂.采用废弃柴油培养生物破乳剂产生菌Alcaligenes sp.S-XJ-1,培养7 d,菌株干重最高可达2.0 g/L,10 g/L的菌株细胞悬液能够将水表面张力从72.0 mN/m降低到29.7 mN/m.生物破乳剂产量为0.3 g/L,其CMC为150 mg/L,表面活性优于化学表面活性剂SDS,且对W/O模型乳状液的破乳效果在70%以上.废弃柴油GC-MS测试结果表明,S-XJ-1菌株能够利用废弃柴油中的C14～C20正构烷烃,且C20正构烷烃几乎被完全利用,其利用率高达99%.S-XJ-1菌株对不同碳链长度正构烷烃复配碳源的利用率及破乳性能随着碳链长度的延长而逐渐增加.与其他正构烷烃复配碳源相比,S-XJ-1菌株对C20正构烷烃利用率最高,合成破乳剂的性能最好,且与废弃柴油研究结果最为接近.TLC和FTIR分析表明S-XJ-1菌株利用废弃柴油合成的生物破乳剂为脂肽类物质.     

Loss or major reduction of umami taste sensation in pinnipeds

Umami is one of basic tastes that humans and other vertebrates can perceive. This taste is elicited by L-amino acids and thus has a special role of detecting nutritious, protein-rich food. The T1R1 + T1R3 heterodimer acts as the principal umami receptor. The T1R1 protein is encoded by the Tas1r1 gene. We report multiple inactivating (pseudogenizing) mutations in exon 3 of this gene from four phocid and two otariid species (Pinnipedia). Jiang et al. (Proc Natl Acad Sci U S A 109:4956–4961, 2012) reported two inactivating mutations in exons 2 and 6 of this gene from another otariid species. These findings suggest lost or greatly reduced umami sensory capabilities in these species. The widespread occurrence of a nonfunctional Tas1r1 pseudogene in this clade of strictly carnivorous mammals is surprising. We hypothesize that factors underlying the pseudogenization of Tas1r1 in pinnipeds may be driven by the marine environment to which these carnivorans (Carnivora) have adapted and may include: the evolutionary change in diet from tetrapod prey to fish and cephalopods (because cephalopods and living fish contain little or no synergistic inosine 5′-monophosphate that greatly enhances umami taste), the feeding behavior of swallowing food whole without mastication (because the T1R1 + T1R3 receptor is distributed on the tongue and palate), and the saltiness of sea water (because a high concentration of sodium chloride masks umami taste).     

锰胁迫下龙葵和小飞蓬根叶中植物螯合肽和类金属硫蛋白的变化

采用溶液培养的方式研究不同锰浓度(0.005,2,4,8,16mmo.lL-1)胁迫下龙葵和小飞蓬的根和叶中的植物螯合肽(PCs)和类金属硫蛋白(MTLP)的诱导合成量.结果显示,随着锰浓度的升高,两种植物的株高和根长先略高于对照,而后逐渐下降.锰胁迫诱导植物产生的PCs有先上升后下降的趋势,但含量较少;而PCs产生的前体物质谷胱甘肽(GSH)和MTLP的诱导量与锰浓度之间存在一定相关性,随着锰浓度增加呈现先上升后下降的规律.两者的非蛋白巯基化合物(TNP-SH)和GSH在8mmol·L-1锰浓度下达到最大值,总体上龙葵的含量比小飞蓬大.MTLP的含量随着锰浓度的升高呈先上升后下降的趋势,龙葵在8mmol·L-1锰浓度时含量最高,而小飞蓬叶和根分别在2mmol·L-1和4mmo.lL-1时即达到最大,之后下降,且龙葵的MTLP含量大于相应浓度下的小飞蓬的含量.实验表明GSH和MTLP对不同锰处理浓度的响应都较敏感,故可作为植物耐锰胁迫及鉴定土壤锰污染的参考指标.随着Mn处理浓度增大,龙葵受Mn胁迫的影响比小飞蓬小,说明其耐Mn水平较小飞蓬高,更适合用于Mn污染地区的植物修复.