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
The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains ...The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains obscure.In this study,we identified specific structural variants in the Boer goat based on genome-wide selection signals and analyzed the basis of the molecular heredity of related candidate genes in muscle development.A total of9 959 autosomal copy number variations(CNVs) were identified through selection signal analysis in 127 goat genomes.Specifically,we confirmed that the highest signal CNV(HSV) was a chromosomal arrangement containing an approximately 1.11 Mb(CHIR17:60062304-61171840 bp) duplicated fragment inserted in reverse orientation and a 5 362 bp deleted region(CHIR17:60145940-60151302 bp) with overlapping genes(e.g.,ARHGAP10,NR3C2,EDNRA,PRMT9,and TMEM184C).The homozygous duplicated HSV genotype(+/+) was found in 96% of Boer goats but was not detected in Eurasian goats and was only detected in 4% of indigenous African goats.The expression network of three candidate genes(ARHGAP10,NR3C2,and EDNRA)regulating dose transcription was constructed by RNA sequencing.Results indicated that these genes were involved in the proliferation and differentiation of skeletal muscle satellite cells(SMSCs) and their overexpression significantly increased the expression of SAA3.The HSV of the Boer goat contributed to superior skeletal muscle growth via the dose effects of overlapping genes.展开更多
目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果...目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果:本研究共检测67例流产组织,成功检测67例,成功率为100.00%,染色体结果异常共49例,异常检出率为73.13%,其中染色体数目异常28例、嵌合体8例、CNVs 13例,其中发生频率最高的四种异常依次是:45,X综合征、16-三体、21-三体和22-三体。结论:染色体异常是胚胎停育的最重要原因,CNV-seq可以检测出常规染色体异常和染色体核型分析无法发现的CNVs,推荐临床上使用对流产物进行CNV-seq检测,可以为患者提供更全面的遗传咨询。展开更多
拷贝数变异(Copy number variation,CNV)是作物基因组中广泛存在的一种遗传变异,与作物的适应性、抗逆性等许多重要农艺性状相关。本文主要就CNV的发生机制、研究方法,尤其是植物中CNV与表型、CNV与植物适应性进化、CNV与重要农艺性状...拷贝数变异(Copy number variation,CNV)是作物基因组中广泛存在的一种遗传变异,与作物的适应性、抗逆性等许多重要农艺性状相关。本文主要就CNV的发生机制、研究方法,尤其是植物中CNV与表型、CNV与植物适应性进化、CNV与重要农艺性状的关联分析等方面的研究进展进行了概述,并就植物CNV的研究对麦类作物相关研究的启示进行了深入剖析,以期为我国麦类作物开展CNV相关研究提供参考信息。展开更多
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。
基金supported by the National Natural Science Foundation of China (32272834)。
文摘The Boer goat is one of the top meat breeds in modern animal husbandry and has attracted widespread attention for its unique growth performance.However,the genetic basis of muscle development in the Boer goat remains obscure.In this study,we identified specific structural variants in the Boer goat based on genome-wide selection signals and analyzed the basis of the molecular heredity of related candidate genes in muscle development.A total of9 959 autosomal copy number variations(CNVs) were identified through selection signal analysis in 127 goat genomes.Specifically,we confirmed that the highest signal CNV(HSV) was a chromosomal arrangement containing an approximately 1.11 Mb(CHIR17:60062304-61171840 bp) duplicated fragment inserted in reverse orientation and a 5 362 bp deleted region(CHIR17:60145940-60151302 bp) with overlapping genes(e.g.,ARHGAP10,NR3C2,EDNRA,PRMT9,and TMEM184C).The homozygous duplicated HSV genotype(+/+) was found in 96% of Boer goats but was not detected in Eurasian goats and was only detected in 4% of indigenous African goats.The expression network of three candidate genes(ARHGAP10,NR3C2,and EDNRA)regulating dose transcription was constructed by RNA sequencing.Results indicated that these genes were involved in the proliferation and differentiation of skeletal muscle satellite cells(SMSCs) and their overexpression significantly increased the expression of SAA3.The HSV of the Boer goat contributed to superior skeletal muscle growth via the dose effects of overlapping genes.
文摘目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果:本研究共检测67例流产组织,成功检测67例,成功率为100.00%,染色体结果异常共49例,异常检出率为73.13%,其中染色体数目异常28例、嵌合体8例、CNVs 13例,其中发生频率最高的四种异常依次是:45,X综合征、16-三体、21-三体和22-三体。结论:染色体异常是胚胎停育的最重要原因,CNV-seq可以检测出常规染色体异常和染色体核型分析无法发现的CNVs,推荐临床上使用对流产物进行CNV-seq检测,可以为患者提供更全面的遗传咨询。
文摘拷贝数变异(Copy number variation,CNV)是作物基因组中广泛存在的一种遗传变异,与作物的适应性、抗逆性等许多重要农艺性状相关。本文主要就CNV的发生机制、研究方法,尤其是植物中CNV与表型、CNV与植物适应性进化、CNV与重要农艺性状的关联分析等方面的研究进展进行了概述,并就植物CNV的研究对麦类作物相关研究的启示进行了深入剖析,以期为我国麦类作物开展CNV相关研究提供参考信息。
