POSTER NO: 434

Characterization of Low Density Lipoprotein Receptor Gene Mutations of Familial Hypercholesterolemia Patients with the Method of Polymerase Chain Reaction and Single Strand Conformation Polymorphism

Mingfang Li, Leming Fan, Xiaoxiang Guan, Qi Chen
Nanjing Medical University, Atherosclerosis Research Center, Nanjing Medical University, 140 Hanzhong Road, Nanjing 210029, P.R.China

Objective: To evaluate the applicable value of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) on research of familial hypercholesterolemia (FH). Methods :Genomic DNA was isolated from whole blood of FH patients, then analysed by PCR-SSCP and nucleotide sequencing. Results :The genes of two patients with FH in one family and their parents were examined. The mutation of LDL receptor gene was a deletion of A, causing a frameshift on codon 297 in exon 6. Conclusion The PCR-SSCP method may be used on research of FH. The early diagnosis in pedigree members of the precedents can be available and it may provide genetic consultation and guidance of FH.