Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels |
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| Authors: | Chunfang Xu Nazeem Nanjee Matti J Tikkanen Jussi K Huttunen Pirjo Pietinen Rene Bütler Franco Angelico Maria Del Ben B Mazzarella R Antonio Norman G Miller Steve Humphries Philippa J Talmud |
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| Institution: | (1) Charing Cross Sunley Research Centre, Lurgan Avenue, W6 8LW London, UK;(2) The Bowman Gray School of Medicine, Wake Forest University, 300 South Hawthorne Road, 27103 Winston-Salem, NC, USA;(3) Third Department of Medicine, University Centre Hospital, SF-00290 Helsinki, Finland;(4) National Public Health Institute, Mannerheimitie 166, SF-00280 Helsinki, Finland;(5) Central Laboratory, Blood Transfusion Service of the Swiss Red Cross, CH-3000 Berne 22, Switzerland;(6) Instituto di Teratia Medica Sistematica, dell Università la Sapienza di Roma, I-00161 Rome, Italy |
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| Abstract: | Summary A G-to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipoprotein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the Ag (h/i) immunochemical polymorphism. Linkage disequilibrium was found between this MspI polymorphic site and the apo B XbaI and EcoRI variable sites and the Ag (a1/d) and (c/g) epitope pairs; there is apparent linkage equilibrium with the apo B PvuII variable site. Based on three population studies (samples from London, Finland and Italy), no significant association was found between this RFLP and serum cholesterol and apo B levels. These data suggest that the arginine 3611 glutamine 3611 substitution has no significant effect on apo B function. |
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