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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Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Abstract / Bemerkung
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.
Erscheinungsjahr
Zeitschriftentitel
European Journal of Clinical Chemistry and Clinical Biochemistry
Band
29
Zeitschriftennummer
6
Seite
395-399
ISSN
PUB-ID

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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.

4 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

A novel missense mutation C127R (FH Zagreb) in the LDL-receptor gene.
Rukavina AS, Topic RZ, Ferencak G, Sucic M., Clin. Chem. Lab. Med. 39(6), 2001
PMID: 11506462
Evaluation of the Roche Diagnostics LightCycler-Apo B 3500 Mutation Detection Kit.
Nauck M, Wieland H, Marz W., Clin. Chem. Lab. Med. 38(7), 2000
PMID: 11028773
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
Cenarro A, Jensen HK, Casao E, Civeira F, Gonzalez-Bonillo J, Rodriguez-Rey JC, Gregersen N, Pocovi M., Hum. Mutat. 11(5), 1998
PMID: 10206683
Screening and identification of familial defective apolipoprotein B-100 in clinical samples by capillary gel electrophoresis.
Lehmann R, Koch M, Pfohl M, Voelter W, Haring HU, Liebich HM., J Chromatogr A 744(1-2), 1996
PMID: 8843667

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