Newborn screening in the genomics era

Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical markers that indicate a disorder. The potential use of whole-genome newborn screening (WG-NBS) as an alternative to the current biochemical testing utilized for NBS would dramatically expand the quantity and types of information parents could learn from screening and is likely to have many implications, both positive and negative. As whole-genome sequencing (WGS) becomes more economical, it probably will be used for the purposes of NBS. However, such an expansion of NBS would contradict many of the principles that have historically guided public health screening programs and, if implemented without sufficient preparation, could result in insufficient infrastructure to accommodate the health care and data management needs that would arise. This article will first look at the past and present of NBS, then the rise of whole genome sequencing, before considering the challenges of WG-NBS, and will end with some thoughts on the path forward.     

DNA甲基化标记法医学应用探讨

CpG的胞嘧啶在DNA复制后多数被甲基化,5-甲基胞嘧啶的分布是贮存表遗传信息的主要形式。近年来研究表明,DNA甲基化标记具有信息含量丰富、相对稳定、检测和结果处理方便、可与SNP联合分析等优点,是一种新的强有力的遗传分析工具。基因组的甲基化差异可用甲基化敏感性限制酶、重亚硫酸盐转化、Maxam-Gilbert裂解等技术来分析。人类基因组甲基化谱有时空特异性、亲源特异性、病理特异性等特征,在法医亲子鉴定、个人识别等方面有潜在应用价值。     

温州汉族人群D12S391、D18S865基因座遗传多态性研究

目的研究短串联重复序列D12S391、D18S865的遗传多态性及法医学应用价值。方法应用聚合酶链反应(PCR)、聚丙烯酰胺凝胶电泳(PAGE)及银染显带技术对温州地区汉族454名无关个体的D12S391、D18S865位点进行分型。结果D12S391观察到11个等位基因,50种基因型;D18S865观察到7个等位基因,21种基因型。基因型频率的分布符合Hardy-Weinberg平衡,两个基因座的观测杂合度(H)分别为0.7974、0.7379;个体识别能力(DP)分别为0.9566、0.9077;多态信息含量(PIC)分别为0.8260、0.7279。结论两个STR基因座具有较高杂合度,等位基因分布符合Hardy-Weinberg平衡(P>0.5),在法医学应用和群体遗传学研究中较高的价值。     

脐带血的法律问题思考

随着干细胞领域科学研究的不断拓展,脐带血(也可称为脐血)成为治疗血液疾病的宝贵资源。现实中出现了脐带血的主体是胎儿还是孕妇、妇产科医生和公共脐血库是否负有告知相对人脐血价值等事项的义务、脐带血与身体分离之后性质究其是物还是仍属身体一部分以及对脐带血中所含基因隐私如何进行保护等问题。脐血的采集、保存及管理应尽快纳入到法律规定中。     

广西苗族人群15个STR基因座的多态性调查

目的调查广西苗族人群无关个体的15个STR基因座(D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、vWA、TPOX、D18S51、D5S818、FGA)多态性,研究其在法医学检验中的应用价值。方法应用AmpFlSTRIdentifilerTM荧光标记复合扩增系统对274例广西苗族无关个体血样DNA进行15个STR基因座的复合扩增,用ABI3100遗传分析仪对扩增产物进行检测,用GeneScan、GenoTyper软件进行基因分型,统计计算15个STR基因座的群体遗传学参数。结果IdentifilerTM荧光标记系统的15个STR基因座在广西苗族人群的累积偶合率为5.04×10-17,累积非父排除率分别为0.9999993。结论该15个STR基因座可满足广西苗族人群法医学的个体识别及亲权鉴定的需要。     

生物剽窃的法律问题初探

生物剽窃的法律问题是有关生物多样性的若干知识产权问题下辖的子课题之一.它缘起于现代生物产业的发展以及南北国家在遗传资源、传统知识保护和惠益分享等问题上的矛盾.之所以要对生物剽窃进行规范是因为它不仅减少和破坏了生物多样性,而且侵害了资源输出国、土著和地方社区的相关权利和经济利益.其行为构成包括:未经相关权利人的事先许可,申报专利时隐瞒来源以及独自享有因此获得的收益.     

基因隐私权的法学思考

由于基因科学迅速发展以及基因技术的广泛使用,对个人基因信息的法律保护问题日显突出.从民法上的隐私权出发,提出基因隐私权的概念,并继而探讨基因隐私权与其他权利,尤其是基因知情权的冲突.通过比较美国与我国对基因隐私权的法律保护,提出了对基因隐私权进行系统法律保护的立法建议.     

Investigating the Refugee Health Disadvantage Among the U.S. Immigrant Population

Much health-disparities research focuses on race and ethnicity, but nativity has proved to be a crucial factor in explaining the immigrant health advantage. Foreign-born subgroups with certain immigration statuses, such as refugees, may have an initial disadvantage. Using nationally representative survey data, we explore differences in health outcomes by analyzing two visa category subgroups in the United States: refugees and nonrefugee immigrants. Our findings show that refugees have a significant disadvantage across multiple health outcomes. This suggests that current refugee health-screening practices should be changed to take into account broader issues, such as chronic disease and functional limitation.     

Seed wars and farmers’ rights: comparative perspectives from Brazil and India

Drawing on interviews with Indian and Brazilian farmers’ rights activists, lawyers, agronomists and plant breeders, this article aims at better understanding how farmers’ rights are protected on paper and implemented on the ground in these two countries. Brazil and India offer important case studies because they are biologically megadiverse countries, and because small farmers represent an important segment of the rural economy. In this article, I show that India has adopted an ownership approach to farmers’ rights, while Brazil leans towards a stewardship approach. Based on an examination of the progress made in enforcing these rights, I further argue that the stewardship model adopted by Brazil is more conducive to the realization of farmers’ rights, and I explore why this is the case. Finally, I show how farmers’ rights provisions in the Brazilian and Indian legislations represent fragile gains that could be curtailed by several bills currently under discussion in the field of seed and plant variety protection.     

复合扩增A10、C4基因座遗传多态性及法医学意义

目的　建立复合扩增A10、C4基因座的体系 ,研究其在法医学检验中的应用价值。方法　生物学样本用Chelex - 10 0的方法提取DNA ,荧光标记的特异性引物复合扩增A10、C4基因座 ,用ABI 310 0遗传分析仪对扩增产物进行检测分型。结果　A10、C4基因座各检出 6个等位基因 ,GD值分别为 0 .6 86 ,0 .84 6 .共检出 2 3种单倍型 ,其单倍型的个体识别率为 0 .9184。扩增女性DNA ,均无特异性扩增产物 ;调查 30个二代家系 ,均未观察到突变基因的存在。结论　A10、C4复合扩增体系多态性较高 ,对法医学中男女混合检材的个人识别及父系亲缘关系鉴定有较高的应用价值。