Genetic patterns of transcobalamin II and the relationships with congenital defects.

摘要: The vitamin B 12-binding protein, transcobalamin 11, is a trace component of plasma with rapid turnover. This protein essential for absorption, transport, cellular uptake and recycling B12 (cobalamin). Congenital 11 deficiency, an inborn error metabolism inherited as recessive trait. homozygous form the deficiency accompanied by severe clinical, hematological immunological disturbances in first months life. Analytical, genetic, biochemical clinical aspects II man vertebrates have been reviewed here. A genetic polymorphism has found man, rabbits mice. Family studies revealed that patterns are determined four polymorphic several rare alleles. variability applied paternity testing population studies. Transcobalamin typing families patients functional led to identification various deficient alleles heterozygous carriers defects. Applying after bone marrow transplantation demonstrated this originates partly marrow. Subsequent investigations cell culture shown human skin fibroblasts cultured synthesize secrete isotypes transport corresponding observed plasma. Comparison types umbilical cord serum maternal types, proven activity derived from fetus. finding will be crucial importance early diagnosis syndrom.