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
Three Alice-Bob Boussinesq(ABB) nonlocal systems with shifted parity■, delayed time reversal■ and ■ nonlocalities are investigated. The multi-soliton solutions of these models are systematically found from the ■ s...Three Alice-Bob Boussinesq(ABB) nonlocal systems with shifted parity■, delayed time reversal■ and ■ nonlocalities are investigated. The multi-soliton solutions of these models are systematically found from the ■ symmetry reductions of a coupled local Boussinesq system. The result shows that for ABB equations with ■ nonlocality, an odd number of solitons is prohibited. The solitons of the ■ nonlocal ABB and ■ nonlocal ABB equations must be paired, while any number of solitons is allowed for the ■ nonlocal ABB system. t-breathers, x-breathers and rogue waves exist for all three types of nonlocal ABB system.In particular, different from classical local cases, the first-order rogue wave can have not only four leaves but also five and six leaves.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 under Grant No 11435005the K.C.Wong Magna Fund in Ningbo University
文摘Three Alice-Bob Boussinesq(ABB) nonlocal systems with shifted parity■, delayed time reversal■ and ■ nonlocalities are investigated. The multi-soliton solutions of these models are systematically found from the ■ symmetry reductions of a coupled local Boussinesq system. The result shows that for ABB equations with ■ nonlocality, an odd number of solitons is prohibited. The solitons of the ■ nonlocal ABB and ■ nonlocal ABB equations must be paired, while any number of solitons is allowed for the ■ nonlocal ABB system. t-breathers, x-breathers and rogue waves exist for all three types of nonlocal ABB system.In particular, different from classical local cases, the first-order rogue wave can have not only four leaves but also five and six leaves.
