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A DNA analysis is the most precise and reliable method for differential diagnosis of FH. More than 700 mutations of the LDL receptor gene were described in the world. The spectrum of the LDL receptor gene mutations differs strikingly between different ethnic groups. The knowledge of the mutation spectra in the given ethnic group is the necessary prerequisite for DNA diagnostics and genetic counseling. The ethnic group of Ashkenazi Jews is characterized by the highest known prevalence of familial hypercholesterolemia 1:56 in contrast to frequency of 1:500 in most other populations. The major mutation 652delGGT known also as G197del or deltaG197 causes FH in Ashkenazi. This mutation, also known as FH-Lithuania thought to originate in this country was found in 7 out of 22 Ashkenazi Jewish families with FH from St. Petersburg (see example of G197del mutation inheritance in the figure). The exact prevalence of familial hypercholesterolemia in Slavic subpopulation of Russia is unknown and is expected to be 1:500 as in most Caucasians. Multiple mutations were reported from FH in Russia (see Table and References). However, out of all LDL receptor gene mutations in Russia only C139G mutation was recurrent. This mutation was found in 3 independently isolated FH families from St. Petersburg and Novosibirsk. Other mutations described in Russia were so far found in unique families. However, the family studies have demonstrated the use of DNA-diagnostics to set the diagnosis of FH in the relatives of the affected individual (see example of E397X mutation inheritance in the figure).
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