假性甲状旁腺功能减退症的研究进展

假性甲状旁腺功能减退症是一种罕见的遗传性疾病,由甲状旁腺激素(PTH)抵抗所致。临床特点有低钙高磷血症、血清PTH升高,部分可表现为Albright遗传性骨营养不良症,并伴有多发激素抵抗。分子遗传学研究表明本症与编码Gs蛋白α亚基(Gsα)的GNAS1基因缺陷相关。Gsα的失活性突变导致AHO畸形,而多发激素抵抗可能是由于组织特异性的GNAS1印记缺陷所致。补充钙剂和活性维生素D是有效的治疗方法,基因治疗是未来的研究方向。     

Individual differences in positivity offset and negativity bias: Gender-specific associations with two serotonin receptor genes

Individual differences in the evaluation of affective stimuli, such as the positivity offset and negativity bias may have a biological basis. We tested whether two SNPs (HTR2A; 102T>C and HTR1A; 1019C>G) related to serotonin receptor function, a biological pathway associated with affective regulation, were differentially related to positivity offset and negativity bias for males and females. Participants were 109 cigarette smokers who rated a series of affective stimuli to assess reactions to positive and negative pictures. Gender × genotype interactions were found for both SNPs. Males with the 102T allele showed a greater positivity offset than males with the 102C allele. For females, in contrast, the 1019C allele was associated with a greater positivity offset than the 1019G allele, whereas the 102T allele was associated with a greater negativity bias than the 102C allele. Identifying how gender differences may moderate the effect of serotonin receptor genes on affective information processing may provide insight into their role in guiding behavior and regulating affect.     

NAVIGATING THE FUTURE IN A SEA OF CRISPR UNCERTAINTY

Humanity's toolkit for altering the world we live in now includes CRISPR. Through an evolutionary process, bacteria acquired a way to protect themselves from an invading virus, making their immediate future more secure. In human hands, this powerful genome-editing tool offers the potential to impact, at a breathtaking rate, not only our own evolutionary future, but the future of other life on this planet. Ethical concerns about altering genomes are not new, but the birth of two CRISPR gene-edited babies last year created a renewed urgency around navigating the future and the lack of an agreed-upon map to guide us is distressing. The goal of this article is not to provide that map but to suggest two essential questions, drawn from the context of events surrounding CRISPR to date, that should guide its drafting—“Who do we trust?” and “When is it time to act?”—and to consider what Unitarian Universalism might contribute to answering those questions.     

“三腿一平台”组成的“基因打靶”——评介2007年度诺贝尔医学奖

2007年度诺贝尔医学奖项目——基因打靶,由三腿和一个平台所构成。三条腿分别是转基因学、同源重组和胚胎干细胞,一个平台指的是基因敲除。除了评价这些组成部分以外,还对推迟评奖进行了质疑。     

COMT基因rs6267多态性与母亲教养行为对青少年身体攻击和关系攻击的交互作用

遗传与环境如何交互作用影响儿童青少年的攻击行为是当前攻击研究中的重要前沿课题之一。近年来, 分子遗传学关于人类攻击的研究已拓展到对不同攻击亚类(身体攻击和关系攻击)的遗传基础的探讨。本研究运用问卷法与DNA分型技术, 对1258名儿童进行为时4年(四年级—七年级)的追踪调查, 考察COMT基因rs6267多态性与母亲教养行为对青少年身体攻击和关系攻击的交互作用以及性别在其中的调节作用。结果发现, COMT基因rs6267多态性与母亲教养行为仅交互作用于男青少年的身体攻击, 母亲教养行为显著预测GG 基因型男青少年的身体攻击, 但对T等位基因男青少年身体攻击的预测作用并不显著。COMT基因rs6267多态性与母亲教养行为对青少年关系攻击的交互作用不显著。本研究结果表明, 身体攻击和关系攻击具有不同遗传基础和发生机制。     

从基因疫苗的研究进展谈科学技术"双刃剑"

基因疫苗可以利用宿主细胞的蛋白合成系统合成目的抗原,诱导机体产生针对该抗原的体液和细胞免疫应答,具有安全性高和诱导全面免疫应答的能力,在肿瘤和病毒性疚病中具有良好的应用前景;但基因疫苗的潜在危险不容忽视,提高其疗效、减轻其副作用成为疫苗研制的重要方向.     

从基因、遗传密码到基因组学和生物信息学

DNA双螺旋模型的建成是20世纪生物学领域极为重要的发现,它为现代分子生物学的发展奠定了基础。DNA结构的发现和后来“中心法则”的提出,以及随后发明的重组DNA和分子克隆技术,使人类获得了崭新的干预生物进化和优化生物的某些功能的有效手段和途径。而20世纪90年代以来,基因组学和生物信息学无疑已成为当前和今后相当长的时期内较活跃和影响较大的生物科学前沿学科。回顾20世纪生物科学发展的主要路线和过程,可以清楚地看到,DNA双螺旋模型在其中所处的承上启下的关键位置和所起到的核心作用。因此．研究、了解DNA双螺旋模型产生的背景、条件,及其对生物学发展产生的积极影响,对我们深刻认识这一重大发现的科学价值,正确把握现代生命科学发展的规律和方向,是大有裨益的。     

DNA双螺旋结构模型与生物医学的发展

DNA双螺旋模型的建立大大推进了生物医学的研究,基因工程技术的诞生和临床医学的发展,已经成为生命科学发展史中的一个里程碑,