Alpha1-antitrypsin: Evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany

Weidinger, S.; Clevė, Hartwig; Patutschnick, W.

doi:10.1007/bf00200725

Cited by 32 publications

(8 citation statements)

References 13 publications

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“…Polymorphic frequencies were seen for PPM 1, M2, M3, S, and Z; whereas PI*F, I and P were observed at frequencies of <0.01. The variant PI M4 recently ident ified by Weidinger et al [10] was not ob served, but since it focuses very close to PI M2 it might be possible that our technique could not separate this low frequency var iant. Our white population is primarily of German and Scandinavian heritage.…”

Section: Resultsmentioning

confidence: 99%

“…The report by Allen et al [1] in 1974 that PI could be phenotyped by isoelectric focusing (IEF) has resulted in identification of over 50 different genetic variants at the PI locus by different inves tigators. The use of IEF also increased the number of common variants, particularly in the case of the original PI*M, which now can be subtyped as PUM1, PUM2, PUM3, and PUM 4 [2,[4][5][6]9,10].…”

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confidence: 99%

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Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Dykes¹,

Miller²,

Polesky³

1984

Hum Hered

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A white population from the State of Minnesota of primarily German and Scandinavian heritage was subtyped for α₁-antitrypsin variants using isoelectric focusing. The frequencies of the genes PPM1 (0.724), PI*M2 (0.137) and PI*M3 (0.095) were consistent with those for white populations documented in the literature from Northern Europe. Other genes identified in the study were PI*F, PPI, PPP, PPS and PPZ.

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Dykes¹,

Miller²,

Polesky³

1984

Hum Hered

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“…Selected studies were distributed as follows: one each from Austria [13], Belgium [14], Latvia [18], Hungary [34], SerbiaMontenegro [62], Sweden [67] and Switzerland [68]; two each from Denmark [15,16], Estonia [17,18] and Lithuania [18,41]; three each from Portugal [53][54][55][56] and the UK [69][70][71]; four each from Finland [19][20][21][22], the Netherlands [42][43][44], Norway [45][46][47] and Spain [62][63][64][65][66]; five each from Russia [57][58][59][60][61] and Germany [29][30][31][32][33]; six from Poland [48][49][50][51]…”

Section: Resultsmentioning

confidence: 99%

Estimated numbers and prevalence of PIS and PIZ alleles of α₁-antitrypsin deficiency in European countries

Blanco¹

2006

Eur Respir J

215

158

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The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for a 1 -antitrypsin deficiency (AT-D) in Europe.Criteria for selection of epidemiological studies were: 1) AT phenotyping performed by isoelectrofocusing or antigen-antibody crossed electrophoresis; 2) rejection of ''screening studies''; 3) statistical precision factor score of o5 for Southwest, Western and Northern Europe, o4 for Central Europe, o3 for Eastern Europe; and 4) samples representative of the general population.A total of 75,390 individuals were selected from 21 European countries (one each from Austria, Belgium, Latvia, Hungary, Serbia-Montenegro, Sweden and Switzerland; two each from Denmark, Estonia and Lithuania; three each from Portugal and the UK; four each from Finland, the Netherlands, Norway and Spain; five each from Russia and Germany; six from Poland; eight from Italy; and nine from France). The total AT-D populations of a particular phenotype in the countries selected were: 124,594 ZZ; 560,515 SZ;16,323,226 MZ; 630,401 SS;and 36,716,819 MS. The largest number of ZZ (5,000-15,000) were in

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“…GC [34]; Germany (south): HP [35], AHSG [36], PLG [14]. PI [37], GC [38]; Spain: HP [39], AHSG [40]. PLG [25], PI and GC [41].…”

Section: Resultsmentioning

confidence: 99%

Genetic Polymorphism of AHSG, FXIIIB, HP and PLG Serum Proteins in Six Jewish Groups in Israel

Clevė¹,

Nevo

Oppong-Nketiah³

et al. 1997

Hum Hered

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The allelic distribution of the polymorphic serum proteins AHSG, PLG, FXIIIB and HP was studied in six Jewish groups who migrated to Israel from the Middle East, North Africa, Rumania, Bulgaria, Central and Eastern Europe. The observed AHSG and PLG allele frequencies in these Jewish groups were more or less similar to the observed distributions in non-Jewish populations from their respective areas of origin, while FXIIIB and HP frequencies were similar to those in European populations. Therefore, no uniform pattern of genetic relationships between the Jewish groups was observed. A genetic distance analysis including comparative data from Europe and the Middle East reflected differences between the Jewish groups according to their areas of origin.

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Alpha1-antitrypsin: Evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany

Cited by 32 publications

References 13 publications

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Estimated numbers and prevalence of PIS and PIZ alleles of α₁-antitrypsin deficiency in European countries

Genetic Polymorphism of AHSG, FXIIIB, HP and PLG Serum Proteins in Six Jewish Groups in Israel

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Alpha1-antitrypsin: Evidence for a fourth PiM allele. Distribution of the PiM subtypes in Southern Germany

Cited by 32 publications

References 13 publications

Distribution of &alpha;<sub>1</sub>-Antitrypsin Variants in a US White Population

Distribution of &alpha;<sub>1</sub>-Antitrypsin Variants in a US White Population

Estimated numbers and prevalence of PI*S and PI*Z alleles of α1-antitrypsin deficiency in European countries

Genetic Polymorphism of AHSG, FXIIIB, HP and PLG Serum Proteins in Six Jewish Groups in Israel

Contact Info

Product

Resources

About

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Distribution of α<sub>1</sub>-Antitrypsin Variants in a US White Population

Estimated numbers and prevalence of PIS and PIZ alleles of α₁-antitrypsin deficiency in European countries