PI (alpha 1-Antitrypsin) Subtypes: Frequency of PI*M4 in Several Populations

Overview

Journal Hum Genet

Specialty Genetics

Date 1982 Jan 1

PMID 6984414

Citations 5

Authors

E C Klasen

A Bos

H D Simmelink

Affiliations

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Abstract

Sera from different populations (Dutch, Northern and Southern Italians and Spaniards) were screened for PI (alpha 1-antitrypsin) types and subtypes. A polyacrylamide isoelectric focusing method was applied, which consisted of the combined use of an ultra-thin highly cross-linked gel, restricted pH range carrier ampholytes and a separator. This technique enabled easy typing and subtyping of all known PI phenotypes including PI*M subtypes. The frequency of the new PI*M4 allele was lowest of all PI*M alleles (0.0476 in The Netherlands, 0.0371 in Northern Italy, 0.0308 in Southern Italy and 0.0146 in Spain).

Citing Articles

PI(alpha 1-antitrypsin) polymorphism in the Japanese: confirmation of PI*M4 and description of new PI variants.

Yuasa I, Suenaga K, Gotoh Y, Ito K, Yokoyama N, Okada K Hum Genet. 1984; 67(2):209-12.

PMID: 6611289 DOI: 10.1007/BF00273002.

Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.

Weidinger S, Jahn W, Cujnik F, SCHWARZFISCHER F Hum Genet. 1985; 71(1):27-9.

PMID: 3875547 DOI: 10.1007/BF00295662.

The alpha 1 antitrypsin variant PI WFINNEYTOWN in a family of Caucasian origin.

Klasen E, LAROS C, Frants R Hum Genet. 1985; 69(2):190-1.

PMID: 3871726 DOI: 10.1007/BF00293297.

Geographical variability of alpha-1-antitrypsin alleles in China: a study on six Chinese populations.

Ying Q, Zhang M, Liang C, Liu X, Huang Y, Wang R Hum Genet. 1985; 69(2):184-7.

PMID: 3871725 DOI: 10.1007/BF00293295.

Does the PI polymorphism alone control alpha-1-antitrypsin expression?.

Martin N, Clark P, Ofulue A, Eaves L, Corey L, Nance W Am J Hum Genet. 1987; 40(3):267-77.

PMID: 3495177 PMC: 1684104.

References

Klasen E, Polanco I, Biemond I, Vazquez C, Pena A . alpha 1-Antitrypsin and coeliac disease in spain. Gut. 1980; 21(11):948-50. PMC: 1419289. DOI: 10.1136/gut.21.11.948. View

Klasen E, Franken C, Volkers W, Bernini L . Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant. Hum Genet. 1977; 37(3):303-13. DOI: 10.1007/BF00393613. View

FERTAKIS A, Tsourapas A, Douratsos D, ANGELOPOULOS B . Pi phenotypes in Greeks. Hum Hered. 1974; 24(3):313-6. DOI: 10.1159/000152667. View

Fargion S, Klasen E, Lalatta F, Sangalli G, Tommasini M, Fiorelli G . Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis. Clin Genet. 1981; 19(2):134-9. DOI: 10.1111/j.1399-0004.1981.tb00684.x. View

Klasen E, DAndrea F, Bernini L . Phenotype and gene distribution of alpha-1-antitrypsin in a North Italian population. Hum Hered. 1978; 28(6):474-8. DOI: 10.1159/000153003. View

Martin J, Sesboue R, Charlionet R, ROPARTZ C, Pereira M . Genetic variants of serum alpha1-antitrypsin (Pi types) in Portuguese. Hum Hered. 1976; 26(4):310-4. DOI: 10.1159/000152819. View

Charlionet R, Martin J, Sesboue R, Madec P, Lefebvre F . Synthesis of highly diversified carrier ampholytes. Evaluation of the resolving power of isoelectric focusing in the Pi system (alpha-1-antitrypsin genetic polymorphism). J Chromatogr. 1979; 176(1):89-101. DOI: 10.1016/s0021-9673(00)92089-2. View

Sharp H, BRIDGES R, Krivit W, FREIER E . Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med. 1969; 73(6):934-9. View

Vesterberg O . Isoelectric focusing of proteins in polyacrylamide gels. Biochim Biophys Acta. 1972; 257(1):11-9. DOI: 10.1016/0005-2795(72)90248-6. View

10.

Fagerhol M, TENFJORD O . Serum Pi types in some European, American, Asian and African populations. Acta Pathol Microbiol Scand. 1968; 72(4):601-8. DOI: 10.1111/j.1699-0463.1968.tb00472.x. View

11.

Laurell C, Eriksson S . The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. 1963. COPD. 2013; 10 Suppl 1:3-8. DOI: 10.3109/15412555.2013.771956. View

12.

Frants R, Eriksson A . Reliable classification of six Pi M subtypes by separator isoelectric focusing. Hum Hered. 1978; 28(3):201-9. DOI: 10.1159/000152959. View

13.

Constans J, Viau M, Gouaillard C . Pi M4: an additional Pi M subtype. Hum Genet. 1980; 55(1):119-21. DOI: 10.1007/BF00329137. View

14.

Cook P . The genetics of alpha1-antitrypsin: a family study in England and Scotland. Ann Hum Genet. 1975; 38(3):275-87. DOI: 10.1111/j.1469-1809.1975.tb00611.x. View

15.

Dijkman J, Penders T, Kramps J, Sonderkamp H, van den Broek W, Ter Haar B . Epidemiology of alpha 1-antitrypsin deficiency in the Netherlands. Hum Genet. 1980; 53(3):409-13. DOI: 10.1007/BF00287064. View

16.

Sesboue R, Charlionet R, Vercaigne D, GUIMBRETIERE J, Martin J . Genetic variants of serum alpha-1-antitrypsin (Pi types) in Bretons. Hum Hered. 1978; 28(4):280-4. DOI: 10.1159/000152968. View

17.

Genz T, Martin J, CLEVE H . Classification of alpha1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype. Hum Genet. 1977; 38(3):325-32. DOI: 10.1007/BF00402159. View

18.

Morin T, Martin J, Feldmann G, RUEFF B, Benhamou J, ROPARTZ C . Heterozygous alpha 1-antitrypsin deficiency and cirrhosis in adults, a fortuitous association. Lancet. 1975; 1(7901):250-1. DOI: 10.1016/s0140-6736(75)91143-5. View

19.

Pascali V, De Mercurio D . Determination of alpha-1-antitrypsin subtypes in the population of Rome: a study in ultrathin-layer isoelectric focusing. Hum Hered. 1981; 31(5):296-8. DOI: 10.1159/000153226. View

20.

Piantelli M, Auconi P, Musiani P . Alpha-1-antitrypsin phenotypes in newborns from Central and Southern Italy. Hum Hered. 1978; 28(6):468-73. DOI: 10.1159/000153002. View