Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate low density lipoprotein receptor (LDLR) function and gene mutation in Chinese patients with familial hypercholesterolemia(FH).</p><p><b>METHODS</b>Lymphocytes were isolated from 10 ml anticoagulated peripheral blood of the patients, then a flow-cytometric method (FCM) with 1,1'-dioctadecyl-3,3,3', 3-tetramethylindocarbocyanine perchlorate labelled low density lipoproetin (DiI-LDL) was used to identify the function of LDLR on the surface of lymphocytes. Genomic DNA was isolated from whole blood of FH patients and analyzed by PCR-single strand conformation polymorphism (SSCP) and nucleotide sequencing methods.</p><p><b>RESULTS</b>Defects of binding and uptaking of LDLR were identified by FCM in 2 FH patients in one family, and their parents were examined in the present study. Then they were analyzed genetically. The detected mutation was a deletion of A, which caused a frame shift in codon 297 of exon 6 and introduced a beforehand stop codon in codon 369.</p><p><b>CONCLUSION</b>A novel mutation of LDL receptor gene was detected by the combination of FCM and PCR-SSCP methods.</p>