title: [Genetic aspects of vitamin D-deficient rickets: genetic markers of blood].
abstract: Polymorphism of the AB0 blood groups, haptoglobin Hp, vitamin-D-binding protein (Gc), transferrin (Tf), alpha 1-antitrypsin (alpha 1-AT) and serum alkaline phosphatase (Pp) was studied in a group of children suffering from rickets (VDDR) and in a adequate control group of healthy individuals of the same sex-age composition. Considerable differences were revealed between the VDDR patients and healthy individuals in frequencies of the PIM1 and PIM2 factors on the alpha 1-AT system, r and p of the AB0 system as well as the Hp. Increase in a portion of one of the homozygotes for the Hp and for the alpha 1-AT system took place at the expense of other homozygote proportion (the latter being decreased). Heterozygotes frequencies remained intact in both compared groups. Atypical combination of phenotypes and gene frequencies was observed in a group of patients in the alpha 1-AT and AB0 systems as compared with usual distribution in European population. Higher frequencies of rare alleles of the loci under study were observed in the VDDR patients, which is partially reflected in increase in heterozygosity level in total within a cogort of patients analysed. Combination of the Hp 1-1 (Hp)--A(AB0)--M2M2 (alpha 1-AT) factors should be considered as unfavourable in rickets prognosis.
authors.forename: V A
authors.initials: VA
authors.lastname: Spitsyn
authors.forename: E G
authors.initials: EG
authors.lastname: Okuneva
authors.forename: P V
authors.initials: PV
authors.lastname: Novikov
authors.forename: R Iu
authors.initials: RIu
authors.lastname: Tashpulatov
authors.forename: E V
authors.initials: EV
authors.lastname: Guseva
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics; D000469:Alkaline Phosphatase / Q000097:blood / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006242:Haptoglobins / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012279:Rickets / Q000235:genetics*; D014168:Transferrin / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: D000017:ABO Blood-Group System; D005819:Genetic Markers; D006242:Haptoglobins; D014168:Transferrin; D000515:alpha 1-Antitrypsin; D000469:Alkaline Phosphatase
vernacular_title: K geneticheskim aspektam vitamin-D-defitsitnogo rakhita. Geneticheskie markery krovi.