Autosomal-dominant osteopetrosis in Chuvashiya |
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Authors: | Ginter E K Kirillov A G Rogaev E I |
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Institution: | Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow, 115478 Russia. ekginter5@mtu-net.ru |
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Abstract: | 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. |
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