POSTER NO: 285

Mutation analysis of the HFE gene in Eurasian populations of Russia

¹Rita Fatkhlislamova, ²Sardana Fedorova, ¹Ludmila Berdina, ¹Elza Khusnutdinova
¹Institute of Biochemistry and Genetics of Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia, ²National Center of Medicine of Yacutija genetic consultation, Yakutsk Russia

Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. In HFE gene involved in HH two missense mutations were described: Cys282Tyr, accounting from 80% to 90% of HH chromosomes, and His63Asp, which is associated with a milder form of the HH representing from 40% to 70% of HH chromosomes. Studies in European populations have shown that heterozygous carrier of the mutations occurs with frequency from 1 in 10 to 1 in 15 with lower frequency of gradient from north to south. The aim of this study was to define a frequency Cys282Tyr and His 63Asp mutations of HFE gene in 8 Eurasian populations of Russia: Udmurts, Mordvinians, Tatars, Bashkirs, Chuvashes, Russians from Bashkortostan, Maris and Yakuts. The frequency of the Cys282Tyr mutation was highest in Udmurts and Russian populations (13.1% and 10.6% respectively), which corresponds to northwestern European populations. Heterozygosity for Cys282Tyr in Mordvinians, Chuvashes and Tatars was 7.3%, 7.14% and 6.3% respectively and was absent in Bashkirs, Maris and Yakuts. In an international study this mutation was the most common in individuals of Northern European descent and was not found in African, Australian and Asian populations. Heterozygosity for His63Asp ranged from 17.7% in Tatars to 31.7% in Mordvinians and 31.9% in Russians from Bashkortostan. The His63Asp mutation is less frequent (occurring 20.8- 24.6%) in Bashkirs, Chuvashes, Udmurts, Maris and Yakuts. A small percentage (0-3.6%) was found to be homozygous for His63Asp and this value was 12.2% in population of Mordvinians. One compound heterozygous individual for the both mutations in Chuvashes population was revealed. Thus, the distribution manner of Cys282Tyr and His63Asp in Eurasian populations of Russia shows Caucasoid and Asian constituent in their gene pools and high Asian constituent in Bashkirs, Maris and Yakuts populations.