Southern Blotting for the Analysis of Human Disease


With the advent of molecular techniques and advances in disease gene identification, molecular diagnostics has taken precedence over biochemical/functional diagnosis. Although the use of conventional Southern blotting techniques may be on the decline, more sensitive and efficient hybridization technologies promise a bright future for effective and early disease diagnosis.

Keywords: molecular diagnosis; triplet repeats; leukaemia; haemoglobinopathies; nucleic acid hybridization; polymerase chain reaction

Figure 1.

Use of Southern blotting in the diagnosis of fragile X syndrome. (a) Map of the FMR1 gene fragment showing regions corresponding to the trinucleotide repeat, restriction sites and probe for Southern hybridization. (b) Southern analysis of DNA in various genotypic scenarios. The abnormally sized bands are shown in red.

Figure 2.

Molecular organization of the normal α‐globin gene cluster and its mutations. The α and ζ genes are depicted by blue and yellow boxes, respectively. B and H represent BglII and BamHI restriction sites, respectively. Probes for Southern blotting map to the α and ζ gene sequences, as shown above the gene map. The map is not to scale. The lines below the gene cluster map indicate the regions deleted in the more common α‐thalassaemia mutations. α3.7 and α4.2 are two mutant alleles seen in various populations. SEA, FIL and THAI represent mutations commonly seen in affected individuals in southeast Asian, Filipino and Thai communities, respectively.



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Further Reading

Arcasoy MO and Gallagher PG (1999) Molecular diagnosis of hemoglobinopathies and other red blood cell disorders. Seminars in Hematology 36(4): 328–339.

Fischel‐Ghodsian N, Vickers MA, Seip M, Winichagoon P and Higgs DR (1988) Characterization of two deletions that remove the entire human zeta‐alpha globin gene complex (−−THAI and −−FIL). British Journal of Haematology 70(2): 233–238.

Hecimovic S, Vlasic J, Barisic L et al. (2001) A simple and rapid analysis of triplet repeat disease by expand long PCR. Clinical Chemistry and Laboratory Medicine 39(12): 1259–1262.

Kattamis AC, Camaschella C, Sivera P, Surrey S and Fortina P (1996) Human alpha‐thalassemia syndromes: detection of molecular defects. American Journal of Hematology 53(2): 81–91.

Kubota T, Das S, Christian SL et al. (1997) Methylation‐specific PCR simplifies imprinting analysis. Nature Genetics 16(1): 16–17.

La Starza R, Vitale A, Serra A et al. (2002) Philadelphia‐positive acute lymphoblastic leukemia with multiple subclones including duplication of the Philadelphia chromosome and Abelson oncogene. Cancer Genetics and Cytogenetics 132(1): 46–50.

Maddalena A, Blick DP and Schulman JD (1992) Molecular diagnosis of genetic disease. Journal of Reproductive Medicine 37(5): 437–444.

Old J (1996) Haemoglobinopathies. Prenatal Diagnosis 16(13): 1181–1186.

Oostra BA and Willemsen R (2001) Diagnostic tests for fragile X syndrome. Expert Reviews in Molecular Diagnosis 1(2): 226–232.

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How to Cite close
Medh, Rheem D(Mar 2003) Southern Blotting for the Analysis of Human Disease. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0002293]