抑制“多余”染色体可治唐氏综合征

染色体数目异常是唐氏综合征等很多遗传疾病的主要原因。一项最新研究发现．一种核糖核酸基因可遏制引发唐氏综合征的“多余”染色体上的基因表达,这将有助于今后开发出防治此类遗传疾病的新技术。     

基于混合泊松分布的新生突变识别算法

对个体而言,不经父母遗传而后天获得的突变称为新生突变,绝大多数癌症都起自新生突变。构建快速精确的变异识别算法将有助于对癌症的研究。然而,针对前期新生突变识别算法准确率不高,且耗时多等问题,本文引入了基于变异位点的先验概率分布模型,运用基于混合泊松分布的期望最大化（EM）算法对新生突变识别算法进行改进与优化,研究了有亲缘关系的新生突变的识别,并在识别精度与运算速度方面与已有算法进行对比。结果表明,基于混合泊松分布的 期望最大化算法在提高运算速度的同时降低了假阳性比率,具有良好的识别效果。     

Identifying G-protein coupled receptors using weighted Levenshtein distance and the nearest neighbor method

G-protein coupled receptors （GPCRs） are a class of seven-helix transmembrane proteins that have been used in bioinformatics as the targets to facilitate drug discovery for human diseases. Although thousands of GPCR sequences have been collected, the ligand specificity of many GPCRs is still unknown and only one crystal structure of the rhodopsin-like family has been solved. Therefore, identifying GPCR types only from sequence data has become an important research issue. In this study, a novel technique for identifying GPCR types based on the weighted Levenshtein distance between two receptor sequences and the nearest neighbor method （NNM） is introduced, which can deal with receptor sequences with different lengths directly. In our experiments for classifying four classes （acetylcholine, adrenoceptor, dopamine, and serotonin） of the rhodopsin-like family of GPCRs, the error rates from the leave-one-out procedure and the leave-half-out procedure were 0.62% and 1.24%, respectively. These results are prior to those of the covariant discriminant algorithm, the support vector machine method, and the NNM with Euclidean distance.     

中国科学院遗传与发育生物学研究所庆祝成立50周年

2009年9月25日,是中国科学院遗传与发育生物学研究所50周年华诞。 多年来,遗传发育所瞄准农业可持续发展和人口健康的国家重大战略需求,针对重要农艺性状分子机理、细胞分化与器官发育、生物分子网络、动植物品质分子设计以及农业资源高效利用等领域的关键科学问题,开展原始创新和集成创新研究,提出和发展具有重大影响的科学理论和概念;建立和完善动植物品种分子设计和培育的方法、重要遗传疾病研发以及农业资源高效利用的技术体系。     

Mitochondrial tRNA^Glu A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family

Mutations in mitochondrial 12S rRNA gene are one of the most important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we report the characterization of one Han Chinese pedigree with aminoglycoside-induced and nonsyndromic hearing loss. This Chinese family carrying the 12S rRNA A1555G mutation exhibited high penetrance and expressivity of heating impairment. In particular, penetrances of hearing loss in this family pedigree were 43.8% and 25%, respectively, when aminoglycoside-induced heating loss was included or excluded. Mutational analysis of entire mitochondrial genomes in this family showed the homoplasmic A1555G mutation and a set of variants belonging to haplogroup Y2. Of these, the A14693G variant occurred at the extremely conserved nucleotide （conventional position 54） of the TψC-loop of tRNA^Clu and was absent in 156 Chinese controls. Nucleotides at position 54 of tRNAs are often modified, thereby contributing to the structural formation and stabilization of functional tRNAs. Thus, the structural alteration of tRNA by the A14693G variant may lead to a failure in tRNA metabolism and impair mitochondrial protein synthesis, thereby worsening mitochondrial dysfunctions altered by the A1555G mutation. Therefore, the tRNA^Glu A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree.     

第一条人工染色体建成

哈佛医校的两位研究人员Andrew Murray和Jack Szostak建成了世界上第一条能正常工作的人工染色体。酵母细胞忠实地复制了染色体并在细胞分裂时传给他们的子细胞。仅管Szostak对《新科学家》杂志说要应用还有几年,但这一工作为更有效地治疗遗传疾病展现了新的希望。     

基于混合泊松分布的新生突变识别算法北大核心CSCD

对个体而言,不经父母遗传而后天获得的突变称为新生突变,绝大多数癌症都起自新生突变。构建快速精确的变异识别算法将有助于对癌症的研究。然而,针对前期新生突变识别算法准确率不高,且耗时多等问题,本文引入了基于变异位点的先验概率分布模型,运用基于混合泊松分布的期望最大化(EM)算法对新生突变识别算法进行改进与优化,研究了有亲缘关系的新生突变的识别,并在识别精度与运算速度方面与已有算法进行对比。结果表明,基于混合泊松分布的期望最大化算法在提高运算速度的同时降低了假阳性比率,具有良好的识别效果。     

国家卫生署(NIH)的人类DNA探针资源库和资料库:美国标准培养物保藏中心(ATCC)对人类遗传学的新作用

在人类遗传疾病诊断和人类基因图谱中的酶切片段长度多态性(RELP_s,restriction fragmentlength polymerphisas) 重组DNA技术为人类遗传学提供新的机会。应用直接基因探针、寡核苷酸探针以及酶切片段长度多态性(RELP_s),推进了遗传疾病的出生前诊断和人类基因组的图谱分析。     

点突变的基因诊断方法的进展

本概述了近年来有关点突变用于疾病诊断的方法的原理和应用，着重介绍有关等位基因特异性扩增（ＡＳＡ）、连接酶链式反应（ＬＣＲ）、ＰＣＲ－ＥＬＩＳＡ法、直接测序法（ＤＳ）等的有关进展，并对各方法之优缺点进行了综合评价分析，以指导合理选用。     

人类性染色体拟常染色体区的研究进展

拟常染色体区是性染色体上的重要区域,对于维持性染色体结构与功能、保证性染色体在减数分裂过程中正常配对与分离具有重要意义。拟常染色体区与常染色体结构与功能的异同点也为了解性染色体的起源与进化提供了很好的材料。人类的拟常染色体区由PAR1和PAR2两个区域组成,这两个区域在结构上有明显不同。位于其上的基因虽然不多,但与许多遗传疾病相关,详细研究该区的基因与疾病的关系还有助于尽早诊断并防治与之相关的遗传疾病。本文全面综述了人类性染色体拟常染色体区的最新研究进展。