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单核苷酸多态性微阵列技术在圆锥动脉干畸形胎儿诊断中的运用 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 2019 【目的】研究圆锥动脉干异常胎儿的拷贝数变异（CNV）情况。【方法】运用染色体微阵列分析方法检测圆锥动脉干异常胎儿的CNV，根据CNV的临床意义，将病例分为非良性组（病理性CNV+临床意义未明CNV）和良性组（无CNV+良性CNV），并分析不同临床意义CNV与胎儿超声特征及预后的关系。【结果】研究期间128例染色体正常圆锥动脉干异常胎儿被纳入研究。其CNV检出率为14.1%（18/128），其中包括病理性CNV为5.5%（7/128）、临床意义未明CNV（VOUS）为4.7%（6/128 ...
林美芳 +4 more
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Zhongshan Daxue xuebao. Yixue kexue ban, 2023 目的探讨光学基因组图谱技术（OGM）在复杂染色体重排中的应用。方法收集2022年1月到2023年6月期间，在中山大学附属第六医院生殖医学中心进行辅助生殖助孕的染色体复杂重排患者5例，对患者进行OGM检测，纳米孔三代测序和胚胎植入前遗传学检测（PGT），并与核型分析、染色体微阵列分析技术（CMA）/基因组拷贝数变异测序（CNV-Seq）的结果分析对比。结果相互易位合并插入，相互易位合并倒位，三联易位均能被OGM成功检测，且与纳米孔测序和CMA/CNV-Seq结果相符。OGM成功定位断裂点位置 ...
何姝婧 +6 more
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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
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单绒毛膜双羊膜囊双胎心脏畸形拷贝数变异分布的差异 [PDF]
Zhongshan Daxue xuebao. Yixue kexue ban, 2018 【目的】分析拷贝数变异在单绒毛膜双羊膜囊双胎（MCDA）合并先天性心脏病病例中分布的差异。 【方法】MCDA双胎合并先心病病例接受胎儿染色体核型检查和染色体微阵列检测，采用Affymetrix CytoScan 高 分辨微阵列平台。【结果】从2010年至2016年，114例MCDA双胎合并心脏畸形且类型不一致，4例合并心脏畸形 且类型一致。114例MCDA双胎合并心脏畸形且类型不一致病例中，72例接受胎儿染色体核型检查。胎儿染色 体核型检测结果如下：5例双胎核型不一致，1例双胎均是47, XYY，
彭软, 谢红宁, 林美芳, 郑菊
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Research Progresses of Tri-Allelic Patterns in Autosomal STR in Forensic DNA Analysis [PDF]
, 2023 Tri-allelic pattern in autosomal STR is a common abnormal typing phenomenon in forensic DNA analysis, which brings difficulties and uncertainties to the evaluation of the evidence weight in actual cases. This paper reviews the types, formation mechanism,
Xiao-yan MA, Hong-yu SUN, Qing LI
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The progress and future prospects of the application of circulating tumor DNA in the diagnosis and treatment of gastric cancer [PDF]
, 2023 Gastric cancer is a prevalent malignant neoplasm globally, characterized by insidious onset, lack of specific clinical manifestations, and a tendency for patients to present at advanced stages with poor prognosis. Therefore, the quest for highly specific
SUN Chongyuan, ZHAO Dongbing
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Progress on Copy Number Variation and Its Application in Forensic Medicine [PDF]
, 2020 Recently, researches on copy number variation （CNV） have extended to every field, such as etiological exploration and precise treatment of complex diseases, as well as genetic breeding and evolution.
XU Qian-nan, ZHANG Jia-yi, LI Cheng-tao,et al.
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Research progress on the mechanism of organ-specific lung metastasis in pancreatic cancer [PDF]
, 2023 Pancreatic cancer is a highly malignant tumor of the digestive system. Due to the non-specific clinical symptoms in the early stage, its early diagnosis is very difficult.
YUE Ming, WANG Liwei, CUI Jiujie
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Zhongguo shiyan zhenduanxue, 2022 目的 研究西安汉族人群CYP2D6基因拷贝数变异以及串联重组多态性的分布频率。方法 采用TaqMan○R定量技术和序列特异性PCR对6 650例西安汉族人群的CYP2D6基因进行拷贝数和CYP2D6*36-*10串联重组多态性分析。结果 西安汉族人群中，4 003人(60.2%)携带有CYP2D6*36-*10串联重组多态性，5人(0.075%)为CYP2D6基因完全缺失，214人(3.22%)有单拷贝的CYP2D6基因，2 088人(31.4%)携带两个拷贝的CYP2D6基因，340人(5.11 ...
刘金辉, 方亚妮
doaj
Research Progress on Discrimination of Monozygotic Twins [PDF]
, 2018 Individual identification plays an import role in the practice of forensic medicine, and often provides crucial evidence for the analysis and detection of criminal cases.
XU Qian-nan, LI Cheng-tao, LIU Xi-ling
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