Rapid diagnosis of familial defective apolipoprotein B-100

Geisel J, Schleifenbaum T, Weisshaar B, Oette K (1991)
European Journal of Clinical Chemistry and Clinical Biochemistry 29(6): 395-399.

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Abstract
A method is described for the rapid, economic and non-radioactive examination of DNA samples from hypercholesterolaemic patients for familial defective apolipoprotein B-100, using a modified polymerase chain reaction (PCR) protocol and restriction enzyme isoform genotyping. Because of the high prevalence of familial defective apolipoprotein B-100, which is estimated to be one in 500 in most screened general populations, interest is focussed on a simple method for detection of this point mutation. In our protocol a diagnostic restriction site is created by PCR, using a specifically designed partly mismatched primer. In the case of familial defective apolipoprotein B-100 the amplified DNA segment contains an additional ScaI site, whereas DNA amplified from the normal allele is resistant to ScaI digestion. A rapid differentiation between the two alleles is achieved by agarose gel electrophoresis of the ScaI-digested PCR product.
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Geisel J, Schleifenbaum T, Weisshaar B, Oette K. Rapid diagnosis of familial defective apolipoprotein B-100. European Journal of Clinical Chemistry and Clinical Biochemistry. 1991;29(6):395-399.
Geisel, J., Schleifenbaum, T., Weisshaar, B., & Oette, K. (1991). Rapid diagnosis of familial defective apolipoprotein B-100. European Journal of Clinical Chemistry and Clinical Biochemistry, 29(6), 395-399.
Geisel, J., Schleifenbaum, T., Weisshaar, B., and Oette, K. (1991). Rapid diagnosis of familial defective apolipoprotein B-100. European Journal of Clinical Chemistry and Clinical Biochemistry 29, 395-399.
Geisel, J., et al., 1991. Rapid diagnosis of familial defective apolipoprotein B-100. European Journal of Clinical Chemistry and Clinical Biochemistry, 29(6), p 395-399.
J. Geisel, et al., “Rapid diagnosis of familial defective apolipoprotein B-100”, European Journal of Clinical Chemistry and Clinical Biochemistry, vol. 29, 1991, pp. 395-399.
Geisel, J., Schleifenbaum, T., Weisshaar, B., Oette, K.: Rapid diagnosis of familial defective apolipoprotein B-100. European Journal of Clinical Chemistry and Clinical Biochemistry. 29, 395-399 (1991).
Geisel, J., Schleifenbaum, T., Weisshaar, Bernd, and Oette, K. “Rapid diagnosis of familial defective apolipoprotein B-100”. European Journal of Clinical Chemistry and Clinical Biochemistry 29.6 (1991): 395-399.
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