Development and Neurobiology
نویسنده
چکیده
It is perhaps surprising to those not intimately involved in the field of genetics to realizethat the total number ofhuman chromosomes was not clearly establi shed until 1956. However, over the past 43 years, cytogenetics has undergone a spectacular evolution involving both cytological and molecular techniques. A major breakthrough was the development in 1970 of the first chromosomal banding technique, called quinicrine banding. This provided the ability to ident ify and enumerate the 46 individual human chromosomes as well as to detect translocations, inversions, regions of amplification, deletions, rearrangements, insertions, and other chromosomal abnormalities. Very quickly, a number of additional banding techniques were developed. Today, Giemsa banding of metaphase chromosomes is the gold standard for karyotypic analysis. The advent of recombinant DNA cloning techniques in the mid 1970s provided an approach to identity genes associated with specific genetic disorders. Cloning made available chromosome-specific repetitive DNA probes and single-copy sequence probes that could be hybridized to chromosomes to detect genetic changes at the molecular level.The development of chromosome-specific libraries by flow cytometry, the introduction of nonisotopically labeled probes, and the advent of methods to suppress hybridization signals from ubiquitous, repetitive sequences, rapidly led to high-throughput gene mapping. Furthermore, the development of interphase cytogenetics permitted the analysis for extra chromosomal copies, loss of heterozygosity, and translocations in interphase nuclei as well as metaphase chromosomes. One of the steps in isolating a gene of interest is to know exactly where it lies on the human genome. Fluorescence detection methods, which rapidly superseded isotopic detection, are the most sensitive and efficient means for detecting
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تاریخ انتشار 2006