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Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase at the human HSDβ3 locus (1p11–p13)

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Summary

Analysis of amplified polymerase chain reaction products of 575 bp from the fourth exon of the human type I 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene at locus HSDβ3 1p11–p13, reveals a frequent two-allele polymorphism at codon Leu338 due to a silent substitution of T by C, thus creating a BglII site leading to 371- and 204-bp fragments. Southern blot analysis of BglII-digested DNA from 57 individuals using a genomic probe detects two allelic fragments of 5.3kb and 0.77 kb, respectively, while two allelic fragments of 3.7 kb and 3.4 kb are obtained in TaqI digests with multiple constant bands, as also observed with BglII digests.

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References

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Authors and Affiliations

  1. Medical Research Council Group in Molecular Endocrinology, CHUL Research Center and Laval University, 2705, Laurier Boulevard, G1V 4G2, Québec, Canada

    Eric Rhéaume, Jean-François Leblanc, Yves Lachance, Fernand Labrie & Jacques Simard

Authors
  1. Eric Rhéaume
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  2. Jean-François Leblanc
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  3. Yves Lachance
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  4. Fernand Labrie
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  5. Jacques Simard
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Rhéaume, E., Leblanc, JF., Lachance, Y. et al. Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase at the human HSDβ3 locus (1p11–p13). Hum Genet 87, 753–754 (1991). https://doi.org/10.1007/BF00201743

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  • DOI: https://doi.org/10.1007/BF00201743

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