The Pi Polymorphism

Fagerhol, M K; Cox, Diane W.

doi:10.1007/978-1-4615-8303-5_1

Cited by 17 publications

(10 citation statements)

References 194 publications

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“…These individuals have Fa milial Mediterranean Fever. In other patho logical states, a distorted band pattern was ob served due to complexing of PI with other pro teins [14]. Since this may be the case in our 3 individuals, they have been omitted from the calculations.…”

Section: Resultsmentioning

confidence: 99%

PI and TF Subtypes in Chuetas (Majorcan Jews)

1992

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PI and TF subtypes were studied in a sample of 137 individuals of the Chueta population. In addition to the PI*M alleles, PI*S, PI*Z, and PI*F were observed in the PI system. In the TF system no TF*B or TF*D alleles were found. PI results were compared with those of some Jewish and non-Jewish populations. The relatively high frequency of PI*S is indicative of a substantial Spanish influence. There are no previous data available on TF*C subtypes in Jews. The very low TF*C3 frequency in Chuetas (lower than in Spain) indicates that this allele may be extremely rare or absent in other Jewish populations.

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Section: Resultsmentioning

confidence: 99%

PI and TF Subtypes in Chuetas (Majorcan Jews)

1992

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“…The haplotypes are named by letters according to their migration pattern; those in the middle are M type while the anodal haplotypes start with A and the cathodal haplotypes end with Z (Gadek & Crystal, 1982; Cox et al, 1980). The two parental haplotypes are inherited in an autosomal condominant fashion, and the phenotype is referred to as the Pi (protease inhibitor) type (Gadek & Crystal, 1982;Cox et al, 1980;Fagerhol & Cox, 1981). Studies of large populations in the USA and Europe have shown that the M-type haplotypes are the most common, comprising approximately 95% of all alAT haplotypes (Gadek & Crystal, 1982;Kueppers, 1978;Fagerhol & Cox, 1981).…”

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confidence: 99%

Characterization of the M1(Ala213) type of .alpha.1-antitrypsin, a newly recognized, common "normal" .alpha.1-antitrypsin haplotype

Nukiwa¹,

Brantly²,

Ogushi³

et al. 1987

Biochemistry

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alpha 1-Antitrypsin (alpha 1AT) is a highly pleomorphic 52-kDa serum glycoprotein that functions as the major inhibitor of neutrophil elastase. Of these, the most common normal alpha 1AT haplotypes identified by isoelectric focusing (IEF) of serum are those of the M family, including M1, M2, and M3. In the course of studying the alpha 1AT type Z gene, we identified a restriction endonuclease BstEII polymorphism in the M1 gene that predicted the existence of a previously unidentified, but relatively common, haplotype of M, referred to as M1(Ala213) [Nukiwa, T., Satoh, K., Brantly, M. L., Ogushi, F., Fells, G. A., Courtney, M., & Crystal, R. G. (1986) J. Biol. Chem. 261, 15989-15994]. In this study we have cloned both alpha 1AT genes from an individual heterozygous for the M1(Ala213) and M1(Val213) haplotypes. Sequencing of the coding exons of both demonstrated that they are identical except for the Ala-Val difference at residue 213. The codominant transmission of the M1(Ala213) gene was demonstrated in a family study. Evaluation of 39 genomic samples of Caucasians with the IEF haplotype M1 demonstrated haplotype frequencies of 68% for M1(Val213) and 32% for M1(Ala213). alpha 1AT serum levels of individuals inheriting the M1(Ala213) gene in a homozygous fashion were in the same range as those for homozygous M1(Val213) as was the rate of association of the M1(Ala213) protein with neutrophil elastase.(ABSTRACT TRUNCATED AT 250 WORDS)

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“…The a1AT molecule is a 52-kDa glycoprotein composed of 394 amino acids and three oligosaccharide chains (4). The serum level of a1AT is determined by codominant expression of the parental genes (3); several phenotypes are associated with levels <35% of normal, such that there is insufficient a1AT available in the lower respiratory tract to inhibit neutrophil elastase, resulting in emphysema (2,3,(5)(6)(7).…”

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confidence: 99%

Production of glycosylated physiologically "normal" human alpha 1-antitrypsin by mouse fibroblasts modified by insertion of a human alpha 1-antitrypsin cDNA using a retroviral vector.

Garver¹,

Chytil²,

Karlsson³

et al. 1987

Proc. Natl. Acad. Sci. U.S.A.

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ABSTRACTa1-Antitrypsin (a1AT) deficiency is a hereditary disorder characterized by reduced serum levels of ailAT, resulting in destruction of the lower respiratory tract by neutrophil elastase. As an approach to augment ajAT levels in this disorder with physiologically normal human ajAT, we have integrated a full-length normal human ajAT cDNA into the genome of mouse fibroblasts. To accomplish this, the retroviral vector N2 was modified by inserting the simian virus (Fig. 1). The ajAT cDNA (pPBO1) was constructed from the human ajAT cDNA-containing plasmid pTG603 (13)

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The Pi Polymorphism

Cited by 17 publications

References 194 publications

PI and TF Subtypes in Chuetas (Majorcan Jews)

PI and TF Subtypes in Chuetas (Majorcan Jews)

Characterization of the M1(Ala213) type of .alpha.1-antitrypsin, a newly recognized, common "normal" .alpha.1-antitrypsin haplotype

Production of glycosylated physiologically "normal" human alpha 1-antitrypsin by mouse fibroblasts modified by insertion of a human alpha 1-antitrypsin cDNA using a retroviral vector.

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