联合常规细胞遗传学技术、多重巢式聚合酶链反应技术检测120例急性白血病患者遗传学异常

探讨如何提高急性白血病患者染色体／特异融合基因异常的检出率与准确率。联合常规细胞遗传学技术、多重巢式聚合酶链反应技术对120例急性白血病患者进行检测。结果表明：应用常规细胞遗传学检测出82例核型异常,占68．3％,而应用多重巢式聚合酶链反应技术检测出54例融合基因异常,占45％。联合这两种技术,120例急性白血病患者的遗传学异常检出率为：75％（90／120）,其中有65例明确了具体染色体改变或特异性融合基因异常。30例患者经常规细胞遗传学检测出具有t（8;21）（q22;q22）或t（15;17）（q22;q12）,多重巢式聚合酶链反应技术检测出39例患者具有AML1／ETO、PML／RARA或CBFB／MYH11融合基因异常。当存在染色体数目异常,或者不存在19种融合基因之一时多重巢式聚合酶链反应结果为阴性。提示常规细胞遗传学技术联合多重巢式聚合酶链反应技术可以有效地提高急性白血病患者染色体异常／特异性融合基因的检出率。     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Genes and human behavior: the emerging paradigm

The physical properties of human beings and other organisms as well as their social behavioral traits are manifestations of both genetic inheritance and environment. Recent behavioral research has indicated that certain characteristics or behaviors—such as schizophrenia, divorce, and homosexuality—are highly heritable and are not governed exclusively by social environment. A balanced view of human behavior includes the effects of social learning as well as of genetically determined behavior. A new paradigm promotes enhanced understanding and acceptance of human diversity, be it cultural, racial, or sexual, and has the potential to unite scientists and theologians by creating common grounds of understanding.     

胃肠道肿瘤的分子靶向治疗:未来的方向?

分子靶向治疗是这几年来消化道肿瘤治疗领域的热门话题.这类新一代的分子靶向生物治疗模式,将在临床治疗肿瘤实践中具有广阔的应用前景.从事肿瘤研究的临床医务人员需要综合归纳这些信息,融汇入自己的认知将之合理应用于患者.我们将真正进入传统的细胞毒性药物攻击与非细胞毒性靶向性药物相结合使用的时代,真正实现延长患者的生命,改善其生活质量的目标.     

The general factor of personality and humor styles

The present study examined the phenotypic, genetic, and environmental correlations between a general factor of personality (GFP) and four humor styles: affiliative, self-enhancing, aggressive, and self-defeating. Participants were 571 same-sex adult twin pairs. Individuals completed the Humor Styles Questionnaire (HSQ) and a short form of the NEO personality scale (from which the GFP was extracted). The GFP was found to be heritable with an estimated value of .31. At the phenotypic level, the GFP was found to correlate significantly with the HSQ scales; positively with affiliative and self-enhancing, and negatively with aggressive and self-defeating. Three of the four phenotypic correlations were found to be attributable to correlated genetic factors, suggesting that these dimensions of humor styles and the GFP may have a common genetic factor.     

If We Build It … Will They Come? – Establishing a Cancer Genetics Services Clinic for an Underserved Predominantly Latina Cohort

Background: Cancer genetic counseling and testing is a standard of care option for appropriate families and can identify individuals at increased risk prior to diagnosis, when prevention or detection strategies are most effective. Despite documented efficacy of cancer risk reduction in high-risk individuals, underserved and minority individuals have a disproportionate cancer burden and limited access to genetic counseling. Methods: A needs assessment survey documented gaps in knowledge and interest in prevention. Satellite clinics were established at two indigent healthcare systems. Cancer genetics CME lectures were conducted and referral guidelines disseminated to clinicians who referred patients for counseling. Results: An increase in clinician knowledge was demonstrated post-CME and reflected by quality referrals. Eighty-eight percent of patients kept their appointments. In the predominantly Latina⁶ (n=77) clinic population, 71.4% were affected with cancer, and 17 mutation positive families were identified. Preliminary data shows a positive impact on patients' motivation and behavior. The majority has expressed satisfaction and reduction in anxiety. Conclusions: This study demonstrates feasibility and acceptability of cancer genetics services in this population, suggesting the potential to reduce cancer morbidity in underserved, high-risk families.“Latino” is the most common census term for individuals of Spanish, Mexican, Central and South American, Cuban, or Puerto Rican descent, referring to ethnicity, and is generally considered a more ethnically/culturally based term for individuals of the aforementioned groups. As this cohort is female the feminine noun “Latina” is used     

人类行为遗传学的伦理问题

行为遗传学是试图定位与行为特性有关的特殊基因或基因组及了解基因与环境之间复杂关系的一种研究.行为遗传学是研究正常范围内的非病理变化,与人类疾病遗传学存在差异.行为遗传学研究面临许多伦理学问题,诸如,智力的遗传性,基因能否决定一切,生物社会学与人类文化评估,生命伦理学与行为遗传学的关系等,因此,对行为遗传学研究结果的阐述必须十分谨慎.     

结核病诊治进展与科技革命

现代科技革命极大地促进了结核病各方面的发展.微生物学和免疫学的发展,揭示了结核病的病因、发病机制、病理生理的本质,分子生物学技术使结核病的基础研究不仅停留在器官、细胞水平,而是深入到蛋白质、核酸、基因的水平;基因治疗的方法可望从根本上治疗结核病.高新技术的产物如X线照片、电子计算机断层扫描、纤维支气管镜检查和新药的出现等极大地提高了临床诊治的能力.借助于各种先进的医疗设备而进行精确的诊断,基因治疗将成为一种崭新的治疗手段.     

Deformation twinning and plastic recovery in Cu/Ag nanolayers under uniaxial tensile straining

Molecular dynamics simulations of nanoscale multilayered Cu/Ag metals have been conducted under uniaxial tensile straining to elucidate the out-of-plane deformation behaviour relevant to tensile spallation experiments. In nanolayers with pristine architectures, plastic dissipation prior to crack nucleation is suppressed owing to the high hydrostatic tensile stress state. The presence of sources for micro-twinning partials, such as micro-cracks or columnar grain boundaries, result in abundant deformation twin lamellae across multiple Cu/Ag interlayers. Plastic recovery is observed during unloading of the nanolayers.     

Is variability in mate choice similar for intelligence and personality traits? Testing a hypothesis about the evolutionary genetics of personality

This study tests the hypothesis presented by Penke, Denissen, and Miller (2007a) that condition-dependent traits, including intelligence, attractiveness, and health, are universally and uniformly preferred as characteristics in a mate relative to traits that are less indicative of condition, including personality traits. We analyzed between-culture mean standard deviations of preference ratings and rankings provided by nearly 10,000 people in 37 cultures for 18 characteristics in a potential mate. Contrary to the hypothesis, preferences for traits indicating agreeableness and conscientiousness were not more variable than preferences for intelligence, and preferences for traits indicating low neuroticism were more uniform than preferences for intelligence. Discussion addresses implications of these results for hypotheses about the evolutionary genetics of intelligence and personality.