47,XY,+dcl(9)(q34)wcp(9+)/46,XY伴隐睾一例

患儿男,10岁,因"双侧隐睾"就诊.患儿系足月、顺产、5岁时发现头颅大,经医院诊断为脑积水.几岁时做双侧隐睾手术.患儿身高120 cm.头颅发育不规则,颜面不对称,自小严重的智力低下,说话不清.

Comparison of Pax1/9 locus reveals 500-Myr-old syntenic block and evolutionary conserved noncoding regions

Identification of conserved genomic regions within and between different genomes is crucial when studying genome evolution. Here, we described regions of strong synteny conservation between vertebrate deuterostomes (tetrapods and teleosts) and invertebrat

Maximin 9, a novel free thiol containing antimicrobial peptide with antimycoplasma activity from frog Bombina maxima

Amphibian skin is a rich resource of antimicrobial peptides, like maximins and maximin Hs from frog Bombina maxima. Novel cDNA clones encoding a precursor protein, which comprises a novel maximin peptide (maximin 9) and reported maximin H3, were isolated from two constructed skin cDNA libraries of B. maxima. The predicted primary structure of maximin 9 is GIGRKFLGGVKTTFRCGVKDFASKHLY-NH2. A surprising substitution is at position 16, with a free cysteine in maximin 9 rather than usual conserved glycine in other reported maximins. Maximin 9, the homodimer form and its Cys(16) to Gly(16) mutant were synthesized and their antimicrobial activities were evaluated. Unlike previously reported maximin 3, the tested bacterial and fungal strains were resistant to maximin 9, its homodimer and the Cys(16) to Gly(16) mutant (with MICs > 100 mu M). On the other hand, interestingly, while eight clinical Mollicutes strains were generally resistant to maximin 9 homodimer and its Cys(16) to Gly(16) mutant, most of them are sensitive to maximin 9 at a peptide concentration of 30 mu M, especially in the presence of dithiothreitol. These results indicate that the presence of a reactive Cys residue in maximin 9 is important for its antimycoplasma activity. The diversity of antimicrobial peptide cDNA structures encountered in B. maxima skin cDNA libraries and the antimicrobial specificity differences of the peptides may reflect well the species' adaptation to the unique microbial environments. (c) 2005 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia

In total, 1218 Chinese from twelve ethnic groups and nine Han geographic groups were screened for the mtDNA 9-bp deletion motif. The frequency of the 9-bp deletion in all samples was 14.7% but ranged from 0% to 32% in the various ethnic groups. Three individuals had a triplication of the 9-bp segment. Phylogenetic and demographic analyses of the mtDNA hypervariable segment 1 (HVS1) sequences suggest that the 9-bp deletion occurred more than once in China. The majority of the Chinese deletion:haplotypes (about 90%) have a common origin as a mutational event following an initial expansion of modem humans in eastern Asia. Other deletion haplotypes and the three haplotypes with a 9-bp triplication may have arisen independently in the Chinese, presumably by replication error. HVS1 haplotype analysis suggests two possible migration routes of the 9-bp deletion in east and southeast Asia. Both migrations originated in China with one route leading to the Pacific Islands via Taiwan, the other to southeast Asia and possibly the Nicobar Islands. Along both routes of peopling, a decrease in HVS1 diversity of the mtDNA haplotypes is observed. The "Polynesian motif (16217T/C, 16247A/G, and 16261C/T)" and the 16140T/C, 16266C/A, or C/G polymorphisms appear specific to each migration route.

Frequency of the mtDNA 9-bp deletion in Chinese ethnic groups

The 9-bp deletion in the COII/tRNA(Lys) intergenic region (region V) of human mitochondrial DNA was screened in 1521 Chinese from 16 ethnic groups and 9 Hen geographic groups. The highest frequency was found in populations of Miao (32.4%) and Bouyei (30.8

中国9种嗜子宫线虫系统发育的初步研究

为了探讨鱼类寄生嗜子宫线虫的系统发育关系,测定了8种嗜子宫线虫的ITS rDNA(核糖体转录内间隔区核 糖核酸)序列和9种嗜子宫线虫的18S rDNA(小亚基核糖体核糖核酸)部分序列,并构建了18S rDNA序列的系统发 育树。在比较和分析ITS rDNA和18S rDNA两种分子标记对嗜子宫科线虫系统发育适用性的基础上,分析了嗜子 宫线虫的系统发育关系。结果表明:中国嗜子宫线虫是单系起源;黄颡鱼似嗜子宫线虫、赣州似嗜子宫线虫和棍头 嗜子宫线虫亲缘关系非常接近,可能是较晚形成的种;似嗜子宫线虫属可能应该被

中国鲤科鱼类染色体组型的研究——Ⅸ.鳊亚科9种鱼和鲴亚科1种鱼的染色体组型

<正> 我们曾报道过分布于湖北省的鳊、鲴亚科鱼类的核型。本文继续报道采自四川和广东省的鳊、鲴亚科另10种鱼的核型考察结果。材料和方法四川半(歺又鱼)由于采集困难,仅分析了一尾雄鱼。其余9种鱼均分析了3—5尾,包括雌雄两种性别(表1)。染色体标本的制备采用体外短期培养肾细胞制片法(采自四川的鱼),或肾细胞直接制片法(采自广东的鱼)。根据我们实验室以前的工作,两种方法的核型分析结果基本上一致。每种鱼计数60—170个细胞确定其2n数。染色体分组按Levan氏的标准,核型分析方法和臂数计算均同以前的报道。核型图

1-mm gate periphery AlGaN/AIN/GaN HEMTs on SiC with output power of 9.39 W at 8 GHz

AlGaN/AlN/GaN high electron mobility transistor (HEMT) structures with high mobility GaN channel layer were grown on 50 min diameter semi-insulating (SI) 6H-SiC substrates by metalorganic chemical vapor deposition and large periphery HEMT devices were fabricated and characterized. High two-dimensional electron gas mobility of 2215 cm(2)/V s at room temperature with sheet electron concentration of 1.044 x 10(13)/cm(2) was achieved. The 50 mm diameter HEMT wafer exhibited a low average sheet resistance of 251.0 Omega/square, with the resistance uniformity of 2.02%. Atomic force microscopy measurements revealed a smooth AlGaN surface with a root-mean-square roughness of 0.27 nm for a scan area of 5 mu mi x 5 pm. The 1-mm gate width devices fabricated using the materials demonstrated a very high continuous wave output power of 9.39 W at 8 GHz, with a power added efficiency of 46.2% and power gain of 7.54 dB. A maximum drain current density of 1300 mA/mm, an extrinsic transconductance of 382 mS/mm, a current gain cutoff frequency of 31 GHz and a maximum frequency of oscillation 60 GHz were also achieved in the same devices. (C) 2007 Elsevier Ltd. All rights reserved.

Structural and photoluminescence properties of In-0.9(Ga/Al)(0.1)As self-assembled quantum dots on InP substrate

Self-assembled In0.9Ga0.1As, In0.9Al0.1As, and InAs quantum dots (QD) were fabricated in an InAlAs matrix lattice-matched to an InP substrate by molecular beam epitaxy. Preliminary characterizations were performed using transmission electron microscopy, photoluminescence, and reflection high-energy electron diffraction. Experimental results reveal clear differences in QD formation, size distribution, and luminescence between the InAs and In-0.9(Ga/Al)(0.1)As samples, which show the potential of introducing ternary compositions to adjust the structural and optical properties of QDs on an InP substrate. (C) 2000 American Institute of Physics. [S0021-8979(00)10213-0].