据相关统计,不明原因的智力低下、多发畸形及发育迟缓中约有12%是由染色体微缺失/微重复所致。国内外多个机构升级了无创产前检测(non-invasive prenatal testing,NIPT)的检测服务范围,加入了染色体拷贝数变异(copy number variation,C...据相关统计,不明原因的智力低下、多发畸形及发育迟缓中约有12%是由染色体微缺失/微重复所致。国内外多个机构升级了无创产前检测(non-invasive prenatal testing,NIPT)的检测服务范围,加入了染色体拷贝数变异(copy number variation,CNV)即NIPT-Plus。本文将对NIPT-Plus产前检测技术近年来在临床中的应用做相关介绍,并展望NIPT-Plus的应用前景。展开更多
目的:研究染色体核型分析和Y染色体微缺失在男性不育患者检测方法中的应用及结果分析。方法:选取陕西地区无精症、弱精症、少精症等男性不育患者120例,采用多重荧光定量PCR方法对Y染色体AZF的6个标签序列位点进行检测以及采用G显带方法...目的:研究染色体核型分析和Y染色体微缺失在男性不育患者检测方法中的应用及结果分析。方法:选取陕西地区无精症、弱精症、少精症等男性不育患者120例,采用多重荧光定量PCR方法对Y染色体AZF的6个标签序列位点进行检测以及采用G显带方法分析其染色体核型。130例健康体检男性作为对照组。结果:120例受检不育患者中,Y染色体基因微缺失11例,检出率9.2% (11/120),其中AZFc区缺乏为10例;对照组130例中检出Y染色体基因微缺失1例,检出率0.8% (1/130),此例为AZFc区缺乏。两组比较,对照组比实验组检出率显著降低,差异有统计学意义(P 0.05)。结论:在陕西地区男性不育患者中,Y染色体AZFc区缺失是最主要的遗传学因素,应提前完善精液常规检查,准确的病因诊断可指导临床医师正确地选择辅助生殖技术。Objective: Application and result analysis of chromosomal karyotype analysis and Y-chromosome microdeletions in the detection of male infertility patients were studied. Methods: A total of 120 male infertility patients with aspermia, asthenozoospermia and oligozoospermia in Shaanxi Province were selected, and the six sequence-tagged sit of Y chromosome AZF were detected by multiplex polymerase chain reaction (PCR) and Cytogenetic analysis was performed with the GTG banding technique. A total of 130 healthy men were treated as the control group. Result: Among 120 infertile patients tested, 11 cases had Y chromosome gene microdeletions, with a detection rate of 9.2% (11/120), including 10 cases with AZFc region deficiency;one case of Y chromosome gene microdeletion was detected in the control group of 130 cases, with a detection rate of 0.8% (1/130). This case is due to AZFc region deficiency. The detection rate of the control group was significantly lower than that of the experimental group, and the difference was statistically significant (P 0.05). Conclusion: In male infertility patients in Shaanxi region, the deletion of the Y chromosome AZFc region is the main genetic factor. Semen routine examination should be improved in advance, and accurate etiological diagnosis can guide clinical physicians to choose the correct assisted reproductive technology.展开更多
目的探讨染色体核型分析、细菌人工染色体标记-微球鉴别/分离法(bacterial artificial chromosome on beads,BoBs)、基因拷贝数目变异检测(copy number variations,CNV)和Y染色体无精子症因子(azoospermia factor,AZF)微缺失联合检测在...目的探讨染色体核型分析、细菌人工染色体标记-微球鉴别/分离法(bacterial artificial chromosome on beads,BoBs)、基因拷贝数目变异检测(copy number variations,CNV)和Y染色体无精子症因子(azoospermia factor,AZF)微缺失联合检测在孕妇羊水染色体鉴定中的应用价值。方法选取2021年7月至2022年12月于皖南医学院第一附属医院(弋矶山医院)产前诊断中心就诊中符合产前诊断指征的孕妇507例,抽取孕16~25 w羊水,分别进行细胞培养染色体核型分析,提取DNA进行BoBs检测,对其中1例21-三体综合征和1例标记染色体进行CNV验证,2例Y染色体进行AZF微缺失验证,统计结果。结果507例羊水穿刺指征统计,以唐筛高风险占比最高,达39.1%(198/507);NIPT高风险组仅占总检查孕妇的14.0%(71/507),但核型分析和BoBs异常结果占比最高,分别占全部异常结果的40.3%(23/57)和47.7%(21/44)。507例羊水标本一共检出异常结果59例(11.6%),其中染色体核型分析检出异常57例(11.2%),常染色体数目异常26例(5.1%),常染色体结构异常14例(2.8%);性染色体数目异常13例(2.6%),性染色体结构异常4例(0.7%)。BoBs检出异常44例(8.7%),其中常染色体数目异常26例(5.1%),性染色体数目异常14例(2.8%),性染色体部分缺失2例(0.4%),检出46,XN,22q11重复2例(0.4%)。BoBs与核型分析结果比对,常染色体和性染色体数目异常结果符合率分别为100.0%和99.8%。另外BoBs将其中1例46,X,del(Y)(q11)判读为45,XO,1例47,XN,+mar[50]/46,XN[10]判读为46,XN,其余染色体结构异常不在BoBs检测范围。CNV验证致病性拷贝数变异1例,临床意义未明拷贝数变异1例;Y染色体AZF微缺失验证2例Y染色体为SRY+,存在AZFb+c缺失。结论羊水染色体核型分析能够发现染色体数目和结构异常核型,对于未知来源的标记染色体和<10 Mb的微缺失/微重复缺乏优势。BoBs对于常染色体数目检测和微缺失/微重复检测具有优势,能提示性染色体片段缺失,但要注意对性染色体的误判,常染色体结构异常不在BoBs检测范围。CNV对于全基因组微缺失和微重复检测具有优势。Y染色体AZF微缺失检测可对Y染色体进行验证。联合应用上述检测技术,能对羊水染色体数目和结构异常提供多方位诊断,值得推广应用。展开更多
文摘据相关统计,不明原因的智力低下、多发畸形及发育迟缓中约有12%是由染色体微缺失/微重复所致。国内外多个机构升级了无创产前检测(non-invasive prenatal testing,NIPT)的检测服务范围,加入了染色体拷贝数变异(copy number variation,CNV)即NIPT-Plus。本文将对NIPT-Plus产前检测技术近年来在临床中的应用做相关介绍,并展望NIPT-Plus的应用前景。
文摘目的:研究染色体核型分析和Y染色体微缺失在男性不育患者检测方法中的应用及结果分析。方法:选取陕西地区无精症、弱精症、少精症等男性不育患者120例,采用多重荧光定量PCR方法对Y染色体AZF的6个标签序列位点进行检测以及采用G显带方法分析其染色体核型。130例健康体检男性作为对照组。结果:120例受检不育患者中,Y染色体基因微缺失11例,检出率9.2% (11/120),其中AZFc区缺乏为10例;对照组130例中检出Y染色体基因微缺失1例,检出率0.8% (1/130),此例为AZFc区缺乏。两组比较,对照组比实验组检出率显著降低,差异有统计学意义(P 0.05)。结论:在陕西地区男性不育患者中,Y染色体AZFc区缺失是最主要的遗传学因素,应提前完善精液常规检查,准确的病因诊断可指导临床医师正确地选择辅助生殖技术。Objective: Application and result analysis of chromosomal karyotype analysis and Y-chromosome microdeletions in the detection of male infertility patients were studied. Methods: A total of 120 male infertility patients with aspermia, asthenozoospermia and oligozoospermia in Shaanxi Province were selected, and the six sequence-tagged sit of Y chromosome AZF were detected by multiplex polymerase chain reaction (PCR) and Cytogenetic analysis was performed with the GTG banding technique. A total of 130 healthy men were treated as the control group. Result: Among 120 infertile patients tested, 11 cases had Y chromosome gene microdeletions, with a detection rate of 9.2% (11/120), including 10 cases with AZFc region deficiency;one case of Y chromosome gene microdeletion was detected in the control group of 130 cases, with a detection rate of 0.8% (1/130). This case is due to AZFc region deficiency. The detection rate of the control group was significantly lower than that of the experimental group, and the difference was statistically significant (P 0.05). Conclusion: In male infertility patients in Shaanxi region, the deletion of the Y chromosome AZFc region is the main genetic factor. Semen routine examination should be improved in advance, and accurate etiological diagnosis can guide clinical physicians to choose the correct assisted reproductive technology.
文摘目的探讨染色体核型分析、细菌人工染色体标记-微球鉴别/分离法(bacterial artificial chromosome on beads,BoBs)、基因拷贝数目变异检测(copy number variations,CNV)和Y染色体无精子症因子(azoospermia factor,AZF)微缺失联合检测在孕妇羊水染色体鉴定中的应用价值。方法选取2021年7月至2022年12月于皖南医学院第一附属医院(弋矶山医院)产前诊断中心就诊中符合产前诊断指征的孕妇507例,抽取孕16~25 w羊水,分别进行细胞培养染色体核型分析,提取DNA进行BoBs检测,对其中1例21-三体综合征和1例标记染色体进行CNV验证,2例Y染色体进行AZF微缺失验证,统计结果。结果507例羊水穿刺指征统计,以唐筛高风险占比最高,达39.1%(198/507);NIPT高风险组仅占总检查孕妇的14.0%(71/507),但核型分析和BoBs异常结果占比最高,分别占全部异常结果的40.3%(23/57)和47.7%(21/44)。507例羊水标本一共检出异常结果59例(11.6%),其中染色体核型分析检出异常57例(11.2%),常染色体数目异常26例(5.1%),常染色体结构异常14例(2.8%);性染色体数目异常13例(2.6%),性染色体结构异常4例(0.7%)。BoBs检出异常44例(8.7%),其中常染色体数目异常26例(5.1%),性染色体数目异常14例(2.8%),性染色体部分缺失2例(0.4%),检出46,XN,22q11重复2例(0.4%)。BoBs与核型分析结果比对,常染色体和性染色体数目异常结果符合率分别为100.0%和99.8%。另外BoBs将其中1例46,X,del(Y)(q11)判读为45,XO,1例47,XN,+mar[50]/46,XN[10]判读为46,XN,其余染色体结构异常不在BoBs检测范围。CNV验证致病性拷贝数变异1例,临床意义未明拷贝数变异1例;Y染色体AZF微缺失验证2例Y染色体为SRY+,存在AZFb+c缺失。结论羊水染色体核型分析能够发现染色体数目和结构异常核型,对于未知来源的标记染色体和<10 Mb的微缺失/微重复缺乏优势。BoBs对于常染色体数目检测和微缺失/微重复检测具有优势,能提示性染色体片段缺失,但要注意对性染色体的误判,常染色体结构异常不在BoBs检测范围。CNV对于全基因组微缺失和微重复检测具有优势。Y染色体AZF微缺失检测可对Y染色体进行验证。联合应用上述检测技术,能对羊水染色体数目和结构异常提供多方位诊断,值得推广应用。
