PREVALENCE OF LITHUANIAN MUTATION AMONG ST.-PETERSBURG JEWS WITH FAMILIAL HYPERCHOLESTEROLEMIA

We used polymerase chain reaction single strand conformation polymorph ism (PCR-SSCP) analysis to detect LDL receptor gene defects in the St. Petersburg population. We have found a deltaG197 mutation in several patients of Jewish origin. The mutation named is shown to be responsib le for one third (7/23) of familial hypercholesterolemia (FH) cases in St. Petersburg Jews and absent in patients of Russian descent. The pr evalence of a deltaG197 mutation in St. Petersburg Jews is consistent with its origin in Lithuania or Poland. The deltaG197 mutation can be easily detected in polyacrylamide minigels because of formation of spe cific heteroduplexes during PCR with DNA of heterozygous patients, Tak en together with high prevalence of the mutation in St. Petersburg Jew s, this observation provides an opportunity for DNA diagnostics of FH in this ethnic group. Hum Mutat 12:255-258, 1998. (C) 1998 Wiley-Liss, Inc.