Plasminogen Hemizygosity

Skoda, Ulrike; Sf, Goldmann; Händler, Christa; Hummel, K.; Lechler, E.; Lübcke, Ingeborg; Mauff, G.; D, Meyer-Börnecke; Pesch, Stefanie; Pulverer, G.

doi:10.1111/j.1423-0410.1988.tb03907.x

Cited by 10 publications

(2 citation statements)

References 10 publications

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“…The common PI M subtypes were described in former studies by IEF in IPGs [37,38,40,41] and also by HIEF in CA-IPGs [26, 271. The PI polymorphism was also studied by HIEF in miniaturized IPG gels with narrow pH ranges [42].…”

Section: Resultsmentioning

confidence: 91%

Reliable phenotyping of alpha‐1‐antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient

Weidinger¹

1992

Electrophoresis

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Genetically determined phenotypes of the highly polymorphic human alpha 1-antitrypsin were examined by hybrid isoelectric focusing in a narrow immobilized pH gradient. The chosen pH range from 4.45 to 4.75 was useful for identification and classification of the common PI M subtypes and a number of PI variants in the microheterogeneous regions of m6, m7, and m8. A high degree of resolution and an improved sharpness of PI bands was achieved with this excellent technique. It allowed the distinction of a new PI M variant, which has been designated M8, or Mingolstadt, according to the PI nomenclature. The pI difference of this mutant to the slightly cathodically located subtype M3 is approximately 0.001 pH unit. In addition, some common as well as rare phenotypes are presented.

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Section: Resultsmentioning

confidence: 91%

Reliable phenotyping of alpha‐1‐antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient

Weidinger¹

1992

Electrophoresis

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“…This was classified as IEF-M and later identified as PLG/D 676 N. The most frequent IEF patterns often included combinations of one or two wild-type (WT) PLG alleles with a combination of one or two common PLG alleles. Overall, about eighteen phenotypic PLG polymorphisms were initially identified using IEF ( 71 ). Other names for variants included PLG-Nagoya ( 72 ), PLG-Chicago ( 73 ), PLG-Frankfurt ( 74 ), and Plasminogen Paris ( 75 ).…”

Section: Plg Polymorphisms: Historical Contextmentioning

confidence: 99%

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease

Brito-Robinson,

Ayinuola,

Ploplis

et al. 2024

Front. Cardiovasc. Med.

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Human plasminogen (PLG), the zymogen of the fibrinolytic protease, plasmin, is a polymorphic protein with two widely distributed codominant alleles, PLG/Asp453 and PLG/Asn453. About 15 other missense or non-synonymous single nucleotide polymorphisms (nsSNPs) of PLG show major, yet different, relative abundances in world populations. Although the existence of these relatively abundant allelic variants is generally acknowledged, they are often overlooked or assumed to be non-pathogenic. In fact, at least half of those major variants are classified as having conflicting pathogenicity, and it is unclear if they contribute to different molecular phenotypes. From those, PLG/K19E and PLG/A601T are examples of two relatively abundant PLG variants that have been associated with PLG deficiencies (PD), but their pathogenic mechanisms are unclear. On the other hand, approximately 50 rare and ultra-rare PLG missense variants have been reported to cause PD as homozygous or compound heterozygous variants, often leading to a debilitating disease known as ligneous conjunctivitis. The true abundance of PD-associated nsSNPs is unknown since they can remain undetected in heterozygous carriers. However, PD variants may also contribute to other diseases. Recently, the ultra-rare autosomal dominant PLG/K311E has been found to be causative of hereditary angioedema (HAE) with normal C1 inhibitor. Two other rare pathogenic PLG missense variants, PLG/R153G and PLG/V709E, appear to affect platelet function and lead to HAE, respectively. Herein, PLG missense variants that are abundant and/or clinically relevant due to association with disease are examined along with their world distribution. Proposed molecular mechanisms are discussed when known or can be reasonably assumed.

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Application of plasminogen polymorphism to forensic hemogenetics

et al. 1988

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Plasminogen polymorphism (PLG) has attained considerable importance in forensic hemogenetics. PLG comprises two common, codominant autosomal alleles, PLG*A and PLG*B, more than 18 variants, and the silent allele PLG*Q0. Isoelectric focusing followed by functional or immunochemical detection seems to be the optimal method for the determination of phenotypes. PLG*A is the most common allele in all populations, having its highest frequency in Mongoloids, Amerindians and Eskimos, the lowest in Caucasoids. The functionally inactive plasminogen M5 so far has been seen exclusively in Japanese individuals. Silent PLG alleles were only observed in the heterozygous state. No clear differences in functional activity or plasma level could be ascertained for any of the other allotypes. PLG polymorphism is now widely used for many haemogenetic investigations. From the allele distribution in European Caucasoids a single exclusion chance of 17.2% for non-fathers in paternity testing may be calculated. The major prerequisites of a new genetic marker in the parentage expertise, established Mendelian inheritance, favorable distribution of common alleles, low frequency of silent alleles, and simple reproducible typing technology, are fulfilled.

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Plasminogen Hemizygosity

Cited by 10 publications

References 10 publications

Reliable phenotyping of alpha‐1‐antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient

Reliable phenotyping of alpha‐1‐antitrypsin by hybrid isoelectric focusing in an ultranarrow immobilized pH gradient

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease

Application of plasminogen polymorphism to forensic hemogenetics

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