Results 51 to 60 of about 6,558 (158)
Zhongshan Daxue xuebao. Yixue kexue ban, 2019 【目的】评价医学外显子组高通量测序技术用于拷贝数变异（CNV）检测的可行性。【方法】两个不相关的遗传病家系案例，患者除了有智力障碍的类似症状外，无其他明显共同点。通过脆性X染色体综合征基因筛查、染色体G显带技术、染色体微阵列技术以及医学外显子组测序技术等对患者及其家属进行遗传学检测。【结果】在两个家系的患者中均发现染色体拷贝数变异，片段大小从11.4kb到13.03Mb不等。拷贝数变异得到了其他技术的验证。【结论】医学外显子组高通量测序技术用于拷贝数变异相关的遗传病临床辅助诊断是可行的 ...
张彦 +5 more
doaj
Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference [PDF]
, 2023 Objective To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.
Meng-jie TONG, Ke ZHANG, Cai-xia LI, Guang-feng ZHANG, Wen-jie ZHANG, Lan YANG, Qing-tang HOU, Jing LIU
core +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2022 目的调查31个X-STR基因座在中国北方汉族的遗传多态性、连锁不平衡情况和突变率。方法采集209个中国北方汉族健康志愿者家系样本，用MicroreaderTM 19X和AGCU X19 STR荧光检测试剂盒检测，统计基因座的突变率。选取家系中父亲或母亲各207个样本，组成男性和女性无关个体组并进行遗传多态性研究和连锁不平衡检验。结果共检出344个等位基因，基因频率分布在0.001 6-0.810 0之间。其中多态性信息含量最丰富的基因座是DXS10135（PIC=0.912 4）。个体识别能力在男 ...
徐妍 +7 more
doaj
Process of Forensic Medicine in DNA Identification of Aged Human Remains [PDF]
, 2023 Skeleton and teeth are important biological samples. Due to their special structure and strong ability to resist degradation, they are ideal biological materials to retain DNA under natural condition.
Lu CHEN, Zhe ZHOU, Sheng-qi WANG
core +1 more source
Zhongguo shiyan zhenduanxue, 2022 1临床资料患者男性，29岁，无明显诱因出现前胸部持续性顿痛于当地医院就诊，行胸部CT及胃镜检查考虑食管肿瘤，为求进一步检查来吉林大学第二医院就诊。患者自述疼痛2天前曾有饮酒后剧烈呕吐，无黑便、呕血，平日体健，无口服阿司匹林、华法林等药物，无高血压，无遗传性疾病。入院查体：胸部无明显压痛，无腹部压痛、反跳痛，双肺呼吸音清晰，未闻及啰音，心音无异常。当地医院胃镜提示食管下段距门齿约35cm见一处广基巨大隆起物，表面尚光滑，下段粘膜近齿状线处见散在小片状糜烂，
秦丽 +4 more
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Zhongshan Daxue xuebao. Yixue kexue ban, 1988 型特异性成分（group-specific component,简称Gc）是人血清中的一组α2球蛋白。1959年,Hirschfeld用免疫电泳法首先发现人群中的Gc可以被分为Gc1—1,2—1,和2—2三型。此后,许多学者对Gc进行了多方面的研究,证实Gc的多态性是由遗传基因控制的 ...
新尧
doaj
Analysis of Genetic Structure among Different Populations Based on 13 Auto-somal STR Loci in CODIS Core [PDF]
ObjectiveTo investigate the genetic differences among different populations based on 13 autosomal STR loci in CODIS core.MethodsData of 13 autosomal STR loci （CSF1PO, FGA, THO1, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51 ...
HE Xi +5 more
core +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2017 【目的】探讨家族性肌萎缩侧索硬化症10型患者的临床特点、分子遗传学特征。【方法】对2013年中山大学附 属第一医院神经科门诊就诊发现的该病家系行高通量测序法检测其TARDBP基因外显子突变类型。【结果】该家系中3代共 5例患者，每代均有患者且男女都有发病，符合常染色体显性遗传特征。该家系患者于50岁左右起病，病情进展迅速，从出 现临床症状到最终死亡仅为8～18个月左右。TARDBP基因检测结果显示，先证者的exon6发生了c.892 G>A的杂合突变， 另在第3代家系其他成员中 ...
孙毅明 +3 more
doaj
Genetic Structure Analysis of Y Chromosome STR and SNP in Population of Changshu [PDF]
, 2020 Objective To provide a theoretical basis for building a Y chromosome database in specific regions by analyzing the pedigree specific core haplogroup and region specific genetic structure in Changshu.
TANG Xiao, TIAN Jun-zhe, ZHANG Yi-wei, et al
core +1 more source
Dental Floss-derived Biological Sample Collection， DNA Extraction and STR Typing [PDF]
ObjectiveTo evaluate the forensic application value of used dental floss as a source of biological evidence for individual identification by analyzing the effects of dental floss sample collection methods, DNA extraction methods, preservation conditions,
LI Ze-qin +4 more
core +1 more source