Distribution ofα 1 phenotypes in Japanese: Description of Pi M subtypes by isoelectric focusing

Abstract

SummarySerum a~-antitrypsin phenotypes were determined by polyacrylamide gel slab isoelectric focusing in a sample from 1,271 unrelated healthy Japanese living in Tokyo. Three common Pi M subtypes (MIM~, M1M~ and M2M2) were found, and the allele frequencies estimated (Pim= 0.83, Pi~Z=0.17) were found to be similar to those observed in the European populations. A large Z ~ value, however, may indicate the presence of further microheterogeneity among Pi M subtypes. In contrast with Pi M subtypes, rare variants were found only in 0.55~ of the samples examined, and no Z gene was detected. A new fast variant of a~-antitrypsin named Pi Erokyo is reported.

Haptoglobin, group-specific component, transferrin andα 1 subtypes and new variants in Japanese

“…This allele could be similar to PiNhampton described by Arnaud et aL (1978), though no direct comparison has been made. The frequency of this mutant was very similar to the data published by Miyake et aL (1979). This experience enables us to consider this allele to be present in other Asiatic populations.…”

“…The most recent data were published by Miyake et al (1979). In this study four PiM subtypes were observed.…”

“…The data on the serum protein polymorphisms (haptoglobin, group-specific component, transferrin and o:l-antitrypsin) among Japanese have been so far reported by several investigators (Toyomasu and Tate, 1979;Omoto and Harada, 1968;Omoto and Miyake, 1978;Ishimoto et al, 1979;Matsumoto et aL, 1979;Nakajima and Nakazawa, 1980;Matsumoto et al, 1980;Ferrell et aL, 1977;Miyake et al, 1979;Sebetan and Akaishi, 1981;Matsumoto and Sugimoto, 1982).…”

Compound Heterozygosity for Alpha-1-antitrypsin (Siiyama and QOclayton) in an Oriental Patient.

“…No Z deficient variant has been reported from Asian countries (14)(15)(16)(17). One null variant, QOhongkong (a two-nucleotide deletion at residue 3 18) was reported in a Chinese family (8).…”

Congenital Deficiency of Alpha-1-Antitrypsin and Acute Viral Hepatitis in Infancy

“…With the aid of IEF technique we have also checked whether abnormal extrabands [17] appear in the pattern of the ot|AT pheno type during acute viral hepatitis. In no in stance have we noticed this phenomenon, the bands at IEF being identical after recovery and always consistent with those of the par ents.…”