The Use of Microarray Technology for Cytogenetics
The Use of Microarray Technology for Cytogenetics
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DOI：
10.1007/978-1-60761-663-4_8
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发表时间：
2010-01-01
期刊：
影响因子：
--
通讯作者：
Ballif, Blake C.
中科院分区：
文献类型：
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作者：
Bejjani, Bassem A.;Shaffer, Lisa G.;Ballif, Blake C.
微阵列技术的使用正在彻底改变临床细胞遗传学领域。这项新技术改变了细胞遗传学实验室，采用了迄今为止一直是分子遗传学家的领域的技术。对于现代细胞遗传学家来说，对这些技术的深入了解和舒适熟悉是必须的，而不是刺激但自由裁量的智力练习或选择性的奢侈品。未来的细胞遗传学实验室将可能拥有比显微镜更多的扫描仪，比暗室更多的软件包，以及比以往任何时候都更多的技术人员，监督员和接受过分子培训的主任。分子诊断学和临床细胞遗传学之间的技术融合令人兴奋，并已导致许多令人兴奋的发现。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的能力的增强，我们发现的异常也越来越多。了解这些畸变的机制，以指导父母的额外测试和患者及其家属的遗传咨询，需要精通减数分裂机制和染色体结构的个人的专业知识，可能导致这些异常。细胞遗传学家独特的定位，以了解这些机制，并协助遗传咨询师和临床医生在他们的日常互动与患者和家庭。
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.