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The LDL-R gene mutation analysis in sibling sisters of familial hypercholesterolemia

Objective:To screen the point mutation of low density lipoprotein receptor(LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, we use PCR single strand conformation polymorphism(PCR-SSCP),and discuss the molecular pathologic mechanism of FH.Method:A patient with the clinical phenotype of FH as well as her family have been investigated for mutations of promoter and all eighteen exons of LDL-R gene. Screening was carried out by using Touch-down PCR, agarose gel electrophoresis and PCR-SSCP, combined with DNA sequence analysis. Then the result were compared with that in FH GeneBank. Result:A missense mutation in LDL-R extron 13 was detected in 4 members of the family. Compaired with the GeneBank, a G→A base substitution was found in 1?879 site,and it's proved the A606T mutation. Conclusion:A heterozygosis G→A missense mutation in LDL-R gene was found in the twin sisters. The change of the missense mutation in LDL-R extron 13 may come from their father.