a total of 781 serum and 827 red cell samples from four populations of iran (kashan, ardestan, asrara and ardabil) were sub-typed by isoelectric focusing for group-specific componet and red cell enzyme phosphoglucomutase, locus one, respectively. heterogeneity test revealed no significant differences among the populations studied regarding both pgm1 and gc systems.

The resolution of a paternity case is presented in which two indirect exclusions were found for the alleged father during routine paternity testing. Genetic studies on family members of the alleged father elucidated the inheritance pattern within the phosphoglucomutase (PGM1) and Duffy (Fy) blood group systems.

simple and easy way to optimize DNA singlestrand conformation polymorphism analysis. Nucleic Acids Res. 26:2245-2246. 6.Yamashita, K., T. Tatebayashi, H. Shinoda and I. Okayasu. 1996. Simplified rapid nonradioactive PCR-SSCP method applied to Kras mutation analysis. Pathol. Int. 46:801-804. 7.Yip, S.P., W. Putt, D.A. Hopkinson and D.B. Whitehouse. 1999. Identification and characterization of po...

Polysaccharide sidechains attached to proteins play important roles in cell-cell and receptor-ligand interactions. Variation in the carbohydrate component has been extensively studied for the iron transport protein transferrin, because serum levels of the transferrin isoforms asialotransferrin + disialotransferrin (carbohydrate-deficient transferrin, CDT) are used as biomarkers of excessive alc...

Abstract Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis glycans and attachment to proteins lipids. Our study aimed describe clinical, biochemical, molecular findings CDG patients, present long-term follow-up. Material methods A single-center (1995–2019 years) patients with congenital N-glycosylation combined N- O-hypoglycosylation was performed. Resu...

High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our cas...