No abstract

Human orosomucoid (ORM) is composed of two tightly linked loci, ORM1 and ORM2, located on chromosome 9q. Some haplotypes contain duplicated ORM1 or ORM2. The present study using isoelectric focusing has revealed seven ORM haplotypes including new variants and/or silent alleles detected in eight Japanese families. ORM1*5.2-ORM2*15 in combination with common ORM1*1-ORM2*1 produced a five-band pattern. ORM1*5-ORM2*1 was observed in three families. ORM2*9 was coexistent with ORM1*1 or ORM1*2.1. ORM1*Q0 was linked to ORM2*1 or ORM2*14. ORM2*Q0 was suggested to be in association with ORM1*2. The ORM haplotypes with a silent gene must have arisen from unequal crossing-over between the tandemly duplicated genes of ORM.

A new separator isoelectric focusing method for typing of orosomucoid (ORM) was developed. This method provided a superior resolution of ORM patterns: two close bands of ORM1*5.2 products were clearly separated. A total of 364 subjects from Okinawa (Japan) were classified into 21 ORM phenotypes determined by 6 ORM1 and 7 ORM2 alleles including a polymorphic silent allele, ORM2*QO, and 2 new rare variants, ORM2*18 and ORM2*19. These phenotypes were also explained by 12 ORM haplotypes, half of which were polymorphic.

Hp typing and Tf, Gc and Pi subtypings were performed on 144 serum samples from a Nepalese population in the Katmandu Valley, Nepal. The obtained allele frequencies are as follows: Hp¹ = 0.1771, Hp² = 0.8229; Tf^C1 = 0.7222, Tf^C2 = 0.2500, Tf^C3 = 0.0174, Tf^Cnepal(Tf^C9) = 0.0104; Gc^1F= 0.2448, Gc^1S = 0.4825, Gc² = 0.2727; Pi^M1 = 0.6076, Pi^M2 = 0.2118, Pi^M3 = 0.1806. The relationship between this sample population and the Indian population is discussed.

Superoxide dismutase (SOD) activities in Parkineon's disease (PD) were significantly lower than those in controls, especially in a treated PD group. However, SOD activities in an untreated PD group did not decrease. There was a signillcant correlation between SOD activities and the duration of illness in the treated PD group (p<0.05). There was a significant correlation between SOD activities and the present doses of L‐DOPA/carbidopa in the treated PD group.