Results 21 to 30 of about 197,693 (195)
Zhongguo shiyan zhenduanxue, 2022 目的 分析中国西北地区汉族苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因的突变特征。方法 应用PCR产物直接测序法对2003年1月-2019年8月在中国西北五省区新生儿疾病筛查中心或医学遗传中心确诊的223例汉族PKU患儿及其父母的PAH基因启动子、第1-13外显子及其旁侧内含子区域进行基因突变分析。结果在西北地区223例汉族PKU患者446条PAH等位基因中检测出75种致病突变，总检出率为88.6%(395/446)，突变以错义突变（66.7%）、剪切位点突变（16.0%）和无义突变（9.3 ...
何江 +6 more
doaj
高变异Y染色体短串联重复片段检验体系的建立及对北方汉族群体调查
Zhongshan Daxue xuebao. Yixue kexue ban, 2021 目的建立一套五色荧光复合扩增体系，并调查中国北方汉族遗传多态性和父子家系突变情况。方法根据文献筛查出在中国某一群体中突变率为高变异和快速变异的Y-STR基因座，建立一套五色荧光Y-STR复合扩增体系，计算在500个北方汉族无关男性个体中的基因多样性，观察每个样本的Y-STR单倍型，并对中国北方汉族500个父子对进行检测，统计父子间的突变情况。结果成功构建了包含21个Y-STR基因座复合扩增检验体系，在北方汉族群体中基因多态性在0.402 3～0.990 4之间，500个无关个体中未发现有相同的单倍型 ...
李运丽 +6 more
doaj
Genomics‐informed management of ex situ populations
Conservation Biology, EarlyView.Abstract The European Association of Zoos and Aquariums (EAZA) manages insurance populations for hundreds of species through its EAZA ex situ programs (EEPs). EEPs help safeguard against extinction in the wild and provide source populations for genetic rescue programs.
Cock van Oosterhout +8 more
wiley +1 more source
, 2002 利用 Ofloxacin处理获得了纤细裸藻和中型裸藻无叶绿体突变株。吸收光谱测定和自荧光显微观察证明突变株无叶绿素合成 ,DAPI染色方法显示突变株细胞不存在质体 DNA,而无色的长变胞藻细胞中仍有可检测质体 DNA,说明二突变株质体已消失。 SDS ...
王江新,施之新,徐旭东
core +2 more sources
The obsolescence of protected area categories in a polycrisis world
Conservation Biology, EarlyView.Abstract Current global conservation models face significant limitations in addressing the global polycrisis, and the constraints of the International Union for Conservation of Nature protected area (PA) classification system are part of the issue. The principles of the new conservation paradigm—governance, equity, and interculturality—are not viable ...
Pamela Esther Degele
wiley +1 more source
Prenatal diagnosis and genetic analysis of novel missense mutation in <i>FVIII</i> gene. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue Ban血友病A(hemophilia A，HA)属于X连锁隐性遗传性出血性疾病，可引起肌肉、深部组织及关节腔内反复出血，进而导致患者出现不同程度的残疾，目前尚无治愈手段。兰州大学第一医院通过对1例凝血因子VIII(coagulation factor 8，FVIII)]基因18号外显子c.5878C>G杂合意义不明变异的女性携带者进行相应的产前诊断及家系遗传学检测分析发现，FVIII基因突变c.5878C>G为该甲型血友病家系的致病性突变，患者本人及母亲均为杂合突变携带者，哥哥为半合子突变患者 ...
Guo Y +6 more
europepmc +2 more sources
Risk reduction, rangeland use, and the future of human–carnivore coexistence
Conservation Biology, EarlyView.Abstract Efforts to reduce livestock losses to large carnivores are widely regarded as essential for promoting human–carnivore coexistence. Predator‐proof enclosures, compensation programs, improved livestock guarding, and real‐time predator alert systems can reduce depredation and retaliatory killing while enhancing pastoralist livelihoods.
Craig Packer
wiley +1 more source
International Journal of Applied Linguistics, EarlyView.ABSTRACT Multilingual students in Anglophone universities often operate in survival mode. While translanguaging supports learning, critical gaps remain in understanding how translanguaging pedagogies transform and sustain motivation in English‐dominant contexts.
Melissa Jufenna Slamet, Julie Choi
wiley +1 more source
Journal of Critical Infrastructure Policy, Volume 8, Issue 1, Spring/Summer 2027.ABSTRACT Epistemic orphaning, responsibility drift, loss of institutional memory, and non‐stationarity are not new problems in infrastructure governance—they have accompanied long‐life infrastructure throughout its history. What artificial intelligence changes is not the existence of these problems but their scale, opacity, and the structural ...
Priscilla P. Nelson
wiley +1 more source
The Making of the Right to Food: Tracing Food Policy Conflict and Negotiated Outcomes in Colombia
World Food Policy, Volume 12, Issue 2, November 2026.ABSTRACT The 2016 Peace Agreement between the Colombian Government and the FARC guerrilla group marked a historic step toward ending more than five decades of armed conflict. It also reshaped national food policy with lasting implications. During the negotiations, deep ideological divisions emerged between food sovereignty and food security, and these ...
Felipe Roa‐Clavijo
wiley +1 more source