Autosomal Recessive Osteopetrosis in Chuvashiya

Autosomal Recessive Osteopetrosis in Chuvashiya A genetic epidemiological study of osteopetrosis was carried out in Chuvashiya. The major signs of this disorder are severe anemia developed in the prenatal or early postnatal life, hepatosplenomegaly, and a progressive loss of sight and hearing. Osteopetrosis showed the autosomal recessive inheritance with a somewhat increased proportion of affected patients in families. The lowest estimate of osteopetrosis frequency in Chuvashiya was 0.00026, one affected patient per 3879 newborns. The osteopetrosis gene occurred at a frequency of 0.016; the proportion of heterozygotes was 3.15%. The gene was shown to be evenly distributed throughout the republic. Russian Journal of Genetics Springer Journals

Autosomal Recessive Osteopetrosis in Chuvashiya

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Kluwer Academic Publishers-Plenum Publishers
Copyright © 2001 by MAIK “Nauka/Interperiodica”
Biomedicine; Human Genetics
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