目的应用基因组光学图谱技术诊断染色体结构异常,为染色体结构异常导致的疾病提供可靠、实用的诊断方法。方法应用染色体核型分析技术、基因组光学图谱技术和拷贝数变异测序(copy number variation sequencing,CNV-seq)技术对1例患者染...目的应用基因组光学图谱技术诊断染色体结构异常,为染色体结构异常导致的疾病提供可靠、实用的诊断方法。方法应用染色体核型分析技术、基因组光学图谱技术和拷贝数变异测序(copy number variation sequencing,CNV-seq)技术对1例患者染色体异常进行诊断与验证。结果患者核型分析结果为16号染色体可能为未知结构异常或16号染色体与其他染色体相互易位,基因组光学图谱技术和CNV-seq分别诊断和验证为染色体16p11.2-p12.2区杂合性缺失。结论基因组光学图谱技术可以作为染色体结构变异检测与诊断的新型技术。展开更多
Based on the spectral now and the stratification structures of the symplectic group Sp(2n, c) , the Maslov-type index theory and its generalization, the w-index theory parameterized by all ω on the unit circle, for a...Based on the spectral now and the stratification structures of the symplectic group Sp(2n, c) , the Maslov-type index theory and its generalization, the w-index theory parameterized by all ω on the unit circle, for arbitrary paths in Sp(2n, C) are established. Then the Bott-type iteration formula of the Maslov-type indices for iterated paths in Sp(2n, C) is proved, and the mean index for any path in Sp(2n, C) is defined. Also, the relation among various Maslov-type index theories is studied.展开更多
文摘目的应用基因组光学图谱技术诊断染色体结构异常,为染色体结构异常导致的疾病提供可靠、实用的诊断方法。方法应用染色体核型分析技术、基因组光学图谱技术和拷贝数变异测序(copy number variation sequencing,CNV-seq)技术对1例患者染色体异常进行诊断与验证。结果患者核型分析结果为16号染色体可能为未知结构异常或16号染色体与其他染色体相互易位,基因组光学图谱技术和CNV-seq分别诊断和验证为染色体16p11.2-p12.2区杂合性缺失。结论基因组光学图谱技术可以作为染色体结构变异检测与诊断的新型技术。
基金National Natural Science Foundation of China MCSEC of China Qiu Shi Science and Technology Foundation.
文摘Based on the spectral now and the stratification structures of the symplectic group Sp(2n, c) , the Maslov-type index theory and its generalization, the w-index theory parameterized by all ω on the unit circle, for arbitrary paths in Sp(2n, C) are established. Then the Bott-type iteration formula of the Maslov-type indices for iterated paths in Sp(2n, C) is proved, and the mean index for any path in Sp(2n, C) is defined. Also, the relation among various Maslov-type index theories is studied.
