Literature DB >> 1673114

DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg).

W Poller1, J P Faber, S Weidinger, K Olek.   

Abstract

A new PIQ0 variant (PIQ0riedenburg) is described; it is caused by a complete deletion of the alpha 1-antitrypsin (alpha 1 AT) gene. The deletion gives rise to four new restriction fragment length polymorphisms (RFLPs) detected with a genomic probe of the 5' region of the gene. Analysis of the RFLPs indicates that the deletion starts immediately upstream of exon Ic. The deletion extends into the 3' flanking region of the gene but does not include the alpha 1 AT-related gene (the PIL gene), which is located 12 kb downstream of the alpha 1 AT gene.

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Year:  1991        PMID： 1673114     DOI： 10.1007/bf00194647

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene.

Authors:  M H Hofker; M Nelen; E C Klasen; T Nukiwa; D Curiel; R G Crystal; R R Frants
Journal:  Biochem Biophys Res Commun       Date:  1988-09-15       Impact factor: 3.575

2.  Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).

Authors:  A Graham; N A Kalsheker; C R Newton; F J Bamforth; S J Powell; A F Markham
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

3.  Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.

Authors:  D Curiel; M Brantly; E Curiel; L Stier; R G Crystal
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

4.  Highly variable clinical course in severe alpha 1-antitrypsin deficiency--use of polymerase chain reaction for the detection of rare deficiency alleles.

Authors:  W Poller; J P Faber; K Olek
Journal:  Klin Wochenschr       Date:  1990-09-03

5.  alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.

Authors:  T Nukiwa; H Takahashi; M Brantly; M Courtney; R G Crystal
Journal:  J Biol Chem       Date:  1987-09-05       Impact factor: 5.157

6.  Molecular structure and sequence homology of a gene related to alpha 1-antitrypsin in the human genome.

Authors:  J J Bao; L Reed-Fourquet; R N Sifers; V J Kidd; S L Woo
Journal:  Genomics       Date:  1988-02       Impact factor: 5.736

7.  Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes.

Authors:  R I Garver; J F Mornex; T Nukiwa; M Brantly; M Courtney; J P LeCocq; R G Crystal
Journal:  N Engl J Med       Date:  1986-03-20       Impact factor: 91.245

8.  Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes).

Authors:  D W Cox; H Levison
Journal:  Am Rev Respir Dis       Date:  1988-02

9.  A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum.

Authors:  R N Sifers; S Brashears-Macatee; V J Kidd; H Muensch; S L Woo
Journal:  J Biol Chem       Date:  1988-05-25       Impact factor: 5.157

10.  Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

Authors:  K Satoh; T Nukiwa; M Brantly; R I Garver; M Hofker; M Courtney; R G Crystal
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025
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  4 in total

1.  Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

Authors:  J P Faber; W Poller; S Weidinger; M Kirchgesser; R Schwaab; F Bidlingmaier; K Olek
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

Review 2.  Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis.

Authors:  Jennifer A Dickens; David A Lomas
Journal:  Drug Des Devel Ther       Date:  2011-08-17       Impact factor: 4.162

3.  Identification and characterisation of eight novel SERPINA1 Null mutations.

Authors:  Ilaria Ferrarotti; Tomás P Carroll; Stefania Ottaviani; Anna M Fra; Geraldine O'Brien; Kevin Molloy; Luciano Corda; Daniela Medicina; David R Curran; Noel G McElvaney; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123

4.  Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Authors:  Beatriz Lara; Maria Teresa Martínez; Ignacio Blanco; Cristina Hernández-Moro; Eladio A Velasco; Ilaria Ferrarotti; Francisco Rodriguez-Frias; Laura Perez; Irene Vazquez; Javier Alonso; Manuel Posada; Beatriz Martínez-Delgado
Journal:  Respir Res       Date:  2014-10-07
  4 in total

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