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微阵列技术在细胞遗传学中的应用。

The use of microarray technology for cytogenetics.

作者信息

Bejjani Bassem A, Shaffer Lisa G, Ballif Blake C

机构信息

Signature Genomic Laboratories, Spokane, WA, USA.

出版信息

Methods Mol Biol. 2010;632:125-39. doi: 10.1007/978-1-60761-663-4_8.

Abstract

The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists. Intimate knowledge and comfortable familiarity with these techniques are now a must for the modern cytogeneticist, rather than a stimulating but discretionary intellectual exercise or an elective luxury. The cytogenetic laboratory of the future will likely have more scanners than microscopes, more software packages than darkrooms, and more technologists, supervisors, and directors with molecular training than ever before. This technical convergence between molecular diagnostics and clinical cytogenetics is exciting and has already resulted in many stimulating discoveries. However, the traditional skills of the cytogeneticist are needed now more than ever before. As our ability to inspect the genome increases, so does the variety of abnormalities that we uncover. Understanding the mechanisms of these aberrations to guide additional testing of the parents and genetic counseling of the patients and their families requires the expertise of individuals who are well-versed in meiotic mechanisms and chromosomal structures that may lead to these abnormalities. Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families.

摘要

微阵列技术的应用正在彻底改变临床细胞遗传学领域。这项新技术通过采用迄今一直属于分子遗传学家领域的技术,改变了细胞遗传学实验室。对于现代细胞遗传学家来说,深入了解并熟练掌握这些技术现在是必不可少的,而不再是一种有趣但可自由选择的智力活动或一种可有可无的奢侈。未来的细胞遗传学实验室可能扫描仪比显微镜更多,软件包比暗房更多,并且接受分子培训的技术人员、主管和主任比以往任何时候都更多。分子诊断与临床细胞遗传学之间的这种技术融合令人兴奋,并且已经带来了许多激动人心的发现。然而,现在比以往任何时候都更需要细胞遗传学家的传统技能。随着我们检查基因组能力的提高,我们发现的异常种类也在增加。要理解这些畸变的机制,以便指导对父母进行进一步检测以及为患者及其家属提供遗传咨询,就需要精通减数分裂机制和可能导致这些异常的染色体结构的专业人员的专业知识。细胞遗传学家具有独特的地位来理解这些机制,并在遗传咨询师和临床医生与患者及其家属的日常互动中提供帮助。

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