瓯江彩鲤(Cyprinus carpio var. color)是鲤的体色变异群体,至今已有1200多年的养殖历史。瓯江彩鲤体色丰富、肉质鲜嫩、抗逆性强、生长迅速,同时具备了食用、观赏和科研的多重价值。2010以来,开展了瓯江彩鲤体色相关基因的克隆与分析...
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瓯江彩鲤(Cyprinus carpio var. color)是鲤的体色变异群体,至今已有1200多年的养殖历史。瓯江彩鲤体色丰富、肉质鲜嫩、抗逆性强、生长迅速,同时具备了食用、观赏和科研的多重价值。2010以来,开展了瓯江彩鲤体色相关基因的克隆与分析、分子标记筛选与差减杂交、转录组和表观遗传学分析等工作,筛选到了与体色高度关联基因;2015年以来,开展了瓯江彩鲤基因组重测序工作,探测体色变异的基因组选择印迹,构建不同体色鲤间的系统进化关系,解析鲤体色进化的路径与机制;2016年以来,应用CRISPR/Cas9基因编辑技术在瓯江彩鲤和斑马鱼上进行体色相关基因的功能验证,在斑马鱼和瓯江彩鲤中分别构建了数个体色基因敲除模型,发现黑色合成通路相关基因和类胡萝卜素合成相关基因的基因敲除中,瓯江彩鲤的体色发生了相应改变,其中TYR基因是决定瓯江彩鲤黑色素合成的关键基因,TYRP1和Dct基因对黑色素合成数量起调控作用,Asip基因对黑色分布起重要调控作用,Scarb基因对红色体表有重要影响。
先天性无痛无汗症(congenital insensitivity to pain with anhydrosis,CIPA)是一种罕见的常染色体隐性遗传病,也称为遗传性感觉和自主神经病变IV型(hereditarysensoryandautonomic neuropathy type IV,HSAN IV),由位于染色体1q23.1区域...
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先天性无痛无汗症(congenital insensitivity to pain with anhydrosis,CIPA)是一种罕见的常染色体隐性遗传病,也称为遗传性感觉和自主神经病变IV型(hereditarysensoryandautonomic neuropathy type IV,HSAN IV),由位于染色体1q23.1区域的NTRK1基因突变导致。本文报道一例8岁的男性患者,该患者出生后反复高热无汗,无疼痛反应,有自噬指/趾尖现象,患者无明显智力障碍,7个月时于北京儿童医院怀疑为无汗性外胚叶发育不良;皮肤病理诊断:表皮显著致密型角化过度,真皮内分泌部汗腺显著减少,腺管稀疏。本研究对患者进行全外显子组测序(WES),在患者的NTRK1等位基因分别检测到一个杂合移码突变(p.L292fs)及一个杂合错义突变(p.E554K),经一代测序验证发现其父母各存在其中一个位点的杂合突变,2个突变位点均未见文献报道;研究结果结合临床表现符合CIPA。
Purple-fleshed sweetpotatoes(PFSP) are not only rich in anthocyanin, but also edible and processed. Many researchers have proved that anthocyanins have strong antioxidant properties and can prevent aging and increase ...
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Purple-fleshed sweetpotatoes(PFSP) are not only rich in anthocyanin, but also edible and processed. Many researchers have proved that anthocyanins have strong antioxidant properties and can prevent aging and increase human immunity effectively. In the past 20 years, more than 70 PFSP cultivars have been released in China. In order to enhance the PFSP breeding efficiency and improve PFSP breeding, the genetic diversity of PFSP reseased in China should be studied and a fingerprint of PFSP should be built. Simple sequence repeat(SSR) markers have been shown to be a powerful tool for varieties identification and fingerprinting in plants. In this study, a total of 124 SSR primer pairs were used to analyze diversity of PFSP, and two highly polymorphic SSR primer pairs(SSR15 A and SSR63 A) showed good polymorphism. Two primer pairs of SSR were used to amplify 73 PFSP, and 23 polymorphic bands(92%) were gotten. SSRbased Genetic similarity coefficients varied from 0.6393-0.9262,with an average of 0.7827 among these varieties. Thus, these PFSP varieties exhibited high levels of genetic similarity and had distinct fingerprint profiles. The SSR fingerprints of the 73 PFSP had been constructed successfully by use 2 highly polymorphic SSR primer pairsThe two highly polymorphic primer pairs developed in this study have the potential to be used as core primer pairs for variety identification and linkage map construction in PFSP or other sweetpotato varieties.
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