Aim: To study the integration of hepatitis B virus (HBV) DNA into sperm chromosomes in hepatitis B patients and the features of its integration. Methods: Sperm chromosomes of 14 subjects (5 healthy controls and 9 HB p...Aim: To study the integration of hepatitis B virus (HBV) DNA into sperm chromosomes in hepatitis B patients and the features of its integration. Methods: Sperm chromosomes of 14 subjects (5 healthy controls and 9 HB patients, including 1 acute hepatitis B, 2 chronic active hepatitis B, 4 chronic persistent hepatitis B, 2 HBsAg chronic carriers with no clinical symptoms) were prepared using interspecific in vitro fertilization between zona-free hamster oocytes and human spermatozoa. Fluorescence in situ hybridization (FISH) to sperm chromosome spreads was carried out with biotin-labeled full length HBV DNA probe to detect the specific HBV DNA sequences in the sperm chromosomes. Results: Specific fluorescent signal spots for HBV DNA were seen in sperm chromosomes of one patient with chronic persistent hepatitis B. In 9(9/42) sperm chromosome complements containing fluorescent signal spots, one presented 5 obvious FISH spots and the others 2 to 4 signals. The fluorescence intensity showed significant difference among the signal spots. The distribution of signal sites among chromosomes seems to be random. Conclusion: HBV could integrate into human sperm chromosomes. Results suggest that the possibility of vertical transmission of HBV via the germ line to the next generation is present.展开更多
人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国...人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国际通用准则。2019年,人类细胞基因组学国际命名委员会对ISCN进行了修订,并于2020年10月正式颁布。本文对《人类细胞基因组学国际命名体系(ISCN2020)》的更新内容进行了介绍和总结。展开更多
目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速诊断自然流产胚胎染色体数目异常的应用价值。方法选择100例早期自然流产胚胎或绒毛进行染色体核型分析,同时应用FISH技术针对高发的13、16、18、21、22、X/Y...目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在快速诊断自然流产胚胎染色体数目异常的应用价值。方法选择100例早期自然流产胚胎或绒毛进行染色体核型分析,同时应用FISH技术针对高发的13、16、18、21、22、X/Y号染色体进行染色体数目检测,并以染色体核型分析为"金标准"进行FISH方法的评估。结果 100例标本中,FISH诊断流产绒毛染色体数目异常39例,非整倍体异常32例,多倍体异常7例;与核型分析相比,2例细胞培养失败的标本通过FISH检测,诊断为16三体,3例标本染色体核型分析诊断为46,XX,经FISH检测发现2例为22三体,1例为46,XY,经其他方法检测,结果与FISH诊断结果相符。两方法进行Kappa检验分析,κ系数=0.735>0.7,P=0.000<0.05,说明FISH方法与染色体核型分析吻合度有统计学意义且较强。结论 FISH技术是一种快速的细胞分子诊断技术,建议经济承受力较强的流产患者在进行流产绒毛染色体核型分析的同时行FISH检查。展开更多
Background： Hydrothorax, as one of the common complications of malignant tumors, still cannot be sensitively detected in clinical practice, thus requiring a sensitive, specific method for diagnosis. The aim of this s...Background： Hydrothorax, as one of the common complications of malignant tumors, still cannot be sensitively detected in clinical practice, thus requiring a sensitive, specific method for diagnosis. The aim of this study was to analyze the correlation between levels of vascular endothelial growth factor （VEGF） and epidermal growth factor receptor （EGFR） in patients with benign and malignant hydrothorax. Methods： The contents of VEGF in the pleural effusion and serum of the patients with malignant pleural effusion （n = 35） and benign pleural effusion （n = 30） were detected by double antibody sandwich enzyme linked immunosorbent assay. The gene copy number level of EGFR in pleural effusion was detected by fluorescence in situ hybridization （FISH）. The points with the highest sensitivity and specificity were selected as the critical values to calculate the diagnostic value of the VEGF in pleural effusion and serum, and EGFR gene copy number in pleural effusion. Results： The contents of VEGF in pleural effusion and serum of patients with malignant hydrothorax were （384.91 ± 120.18）, and （129.62 ±46.35） ng/L, respectively, which were significantly higher than those of the patients with benign hydrothorax （207.97 ± 64.04）, （63.49 ± 24.58） ng/L （P 〈 0.01 ）. The sensitivity and specificity of detecting VEGF in pleural effusion were 80.0% and 96.7% （the boundary value was 297.06 ng/L）, respectively for diagnosing benign and malignant hydrothorax. The sensitivity and specificity of serum were 74.3% and 96.7%, respectively （the boundary value was 99.21 ng/L） for diagnosing benign and malignant hydrothorax. The diagnostic efficiencies of EGFR and VEGF in hydrothorax were similar. There was a significant correlation between EGFR and VEGF in hydrothorax （P 〈 0.01 ）. Conclusions： VEGF and EGFR play important roles in the formation of pleural effusion. VEGF differed significantly in benign and malignant pleural effusions, which contributed to differential diagno展开更多
目的探讨Y染色体臂间倒位患者精子减数分裂形成中性染色体的分离规律。方法采用G带、C带及荧光原位杂交（fluorescence in situ hybridization，FISH）对中期分裂相进行分析，应用三色探针CEPX、TelXp／Yp、TelXq／Yq对5例inv（Y）（p11...目的探讨Y染色体臂间倒位患者精子减数分裂形成中性染色体的分离规律。方法采用G带、C带及荧光原位杂交（fluorescence in situ hybridization，FISH）对中期分裂相进行分析，应用三色探针CEPX、TelXp／Yp、TelXq／Yq对5例inv（Y）（p11．1q11．2）患者精子进行FISH，同时以染色体正常男性的正常精液作为对照。结果5例inv（Y）（p11．1q11．2）精子性染色体数目及重组Y染色体异常率与对照组比差异无统计学意义。结论inv（Y）（p11．1q11．2）患者精子无明显性染色体数目与结构异常，精子FISH分析可为其提供更准确的遗传咨询及指导植入前遗传学诊断。展开更多
文摘Aim: To study the integration of hepatitis B virus (HBV) DNA into sperm chromosomes in hepatitis B patients and the features of its integration. Methods: Sperm chromosomes of 14 subjects (5 healthy controls and 9 HB patients, including 1 acute hepatitis B, 2 chronic active hepatitis B, 4 chronic persistent hepatitis B, 2 HBsAg chronic carriers with no clinical symptoms) were prepared using interspecific in vitro fertilization between zona-free hamster oocytes and human spermatozoa. Fluorescence in situ hybridization (FISH) to sperm chromosome spreads was carried out with biotin-labeled full length HBV DNA probe to detect the specific HBV DNA sequences in the sperm chromosomes. Results: Specific fluorescent signal spots for HBV DNA were seen in sperm chromosomes of one patient with chronic persistent hepatitis B. In 9(9/42) sperm chromosome complements containing fluorescent signal spots, one presented 5 obvious FISH spots and the others 2 to 4 signals. The fluorescence intensity showed significant difference among the signal spots. The distribution of signal sites among chromosomes seems to be random. Conclusion: HBV could integrate into human sperm chromosomes. Results suggest that the possibility of vertical transmission of HBV via the germ line to the next generation is present.
文摘人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国际通用准则。2019年,人类细胞基因组学国际命名委员会对ISCN进行了修订,并于2020年10月正式颁布。本文对《人类细胞基因组学国际命名体系(ISCN2020)》的更新内容进行了介绍和总结。
文摘Background： Hydrothorax, as one of the common complications of malignant tumors, still cannot be sensitively detected in clinical practice, thus requiring a sensitive, specific method for diagnosis. The aim of this study was to analyze the correlation between levels of vascular endothelial growth factor （VEGF） and epidermal growth factor receptor （EGFR） in patients with benign and malignant hydrothorax. Methods： The contents of VEGF in the pleural effusion and serum of the patients with malignant pleural effusion （n = 35） and benign pleural effusion （n = 30） were detected by double antibody sandwich enzyme linked immunosorbent assay. The gene copy number level of EGFR in pleural effusion was detected by fluorescence in situ hybridization （FISH）. The points with the highest sensitivity and specificity were selected as the critical values to calculate the diagnostic value of the VEGF in pleural effusion and serum, and EGFR gene copy number in pleural effusion. Results： The contents of VEGF in pleural effusion and serum of patients with malignant hydrothorax were （384.91 ± 120.18）, and （129.62 ±46.35） ng/L, respectively, which were significantly higher than those of the patients with benign hydrothorax （207.97 ± 64.04）, （63.49 ± 24.58） ng/L （P 〈 0.01 ）. The sensitivity and specificity of detecting VEGF in pleural effusion were 80.0% and 96.7% （the boundary value was 297.06 ng/L）, respectively for diagnosing benign and malignant hydrothorax. The sensitivity and specificity of serum were 74.3% and 96.7%, respectively （the boundary value was 99.21 ng/L） for diagnosing benign and malignant hydrothorax. The diagnostic efficiencies of EGFR and VEGF in hydrothorax were similar. There was a significant correlation between EGFR and VEGF in hydrothorax （P 〈 0.01 ）. Conclusions： VEGF and EGFR play important roles in the formation of pleural effusion. VEGF differed significantly in benign and malignant pleural effusions, which contributed to differential diagno
文摘目的探讨Y染色体臂间倒位患者精子减数分裂形成中性染色体的分离规律。方法采用G带、C带及荧光原位杂交（fluorescence in situ hybridization，FISH）对中期分裂相进行分析，应用三色探针CEPX、TelXp／Yp、TelXq／Yq对5例inv（Y）（p11．1q11．2）患者精子进行FISH，同时以染色体正常男性的正常精液作为对照。结果5例inv（Y）（p11．1q11．2）精子性染色体数目及重组Y染色体异常率与对照组比差异无统计学意义。结论inv（Y）（p11．1q11．2）患者精子无明显性染色体数目与结构异常，精子FISH分析可为其提供更准确的遗传咨询及指导植入前遗传学诊断。
