Abstract
Study of the molecular structure of human chromosomes began in 1869, when Miescher first described “nuclein” extracted from the nuclei of pus cells. Miescher’s description of the new substance lacked biochemical resolution, but the discovery that “nuclein” was found to be universally present in nuclei from a variety of sources led to speculation, even before the turn of the century, that nucleic acid might be the bearer of genetic information (Sturtevant, 1965). Biochemists have been working steadily ever since to discover the molecular components and architecture of chromosomes. The work proceeded relatively slowly until the explosive growth of molecular genetics in the 1970s suddenly provided a kit of tools for disassembling DNA into small fragments and then replicating (cloning) the fragments to yield enough material for chemical analysis down to the level of nucleotide sequence. Thanks to these techniques, new information on the molecular structure of chromosomes now flows so rapidly that no one can keep up with it. This chapter describes some of the most important molecular methods used in studying chromosome structure and function. The literature on molecular methodology is growing even more rapidly than the literature on chromosome structure. Useful reviews can be found in Alberts et al. (1989), Darnell et al. (1990), Freifelder (1987), and a variety of “how to” manuals (e.g., Ausubel et al., 1991; Buckler and Housman, 1991; Wu et al., 1989; Zyskind and Bernstein, 1992).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Alberts B, Bray D, Lewis J, et al. (eds) (1989) Molecular biology of the cell, 2nd edn. Garland, New York
Ausubel FM, Brent R, Kingston RE, et al. (eds) (1991) Current protocols in molecular biology. Greene Publ and Wiley-Liss, New York
Buckler AJ, Housman DE (1991) Methods of genome analysis: a gene hunter’s guide. Freeman, Salt Lake City, Utah
Clarke L, Carbon J (1985) The structure and function of yeast centromeres. Annu Rev Genet 19:29–56
Darnell J, Lodish H, Baltimore D (1990) Molecular cell biology, 2nd edn. Scientific American Books, Freeman, New York
Erlich HA, Gibbs R, Kazazian HH Jr (1989) Current communications in molecular biology: polymerase chain reaction. Cold Spring Harbor Laboratory, New York
Freifelder D (1987) Molecular biology, 2nd edn. Jones and Bartlett, Boston
Li H, Gyllensten UB, Xui X, et al. (1988) Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature 335:414–417
Lichter P, Ward DC (1990) Is non-isotopic in-situ hybridization finally coming of age? Nature 345:93–94
Reiss J, Cooper DN (1990) Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet 85:1–8
Sasavage N (1992) Painting by the chromosome numbers. J NIH Res USA 4:44–46
Stinchcomb DT, Struhl K, Davis RW (1979) Isolation and characterisation of a yeast chromosomal replicator. Nature 282:39–43
Sturtevant AH (1965) A history of genetics. Harper and Row, New York
Trask BJ (1991) Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 7:149–154
Van Dilla MA, Deaven LL, Albright KL, et al. (1986) Human chromosome- specific DNA libraries: construction and availability. Bio/Technology 4:537–552
Wu R, Grossman L, Moldave K (eds) (1989) Recombinant DNA methodology. Academic, New York
Zakian VA (1989) Structure and function of telomeres. Annu Rev Genet 23:579–604
Zyskind JW, Bernstein SI (1992) Recombinant DNA laboratory manual, revised edn. Academic, New York
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer-Verlag New York, Inc.
About this chapter
Cite this chapter
Therman, E., Susman, M. (1993). Molecular Methods. In: Human Chromosomes. Springer Study Edition. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-0529-3_5
Download citation
DOI: https://doi.org/10.1007/978-1-4684-0529-3_5
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-97871-0
Online ISBN: 978-1-4684-0529-3
eBook Packages: Springer Book Archive