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Literature DB >> 2899055

Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis.

C Meisen¹, M Higuchi, S Bräutigam, A J Driesel, M Blandfort, K Olek.

Abstract

Prenatal diagnosis of a pregnancy at risk for alpha-1-antitrypsin deficiency was performed by oligonucleotide probe analysis using M- and Z-specific oligonucleotides. The result was confirmed by the alternative approach utilizing restriction fragment length polymorphisms. Application of oligonucleotide analysis requires only fetal tissue if proteinase inhibitor types are accurately determined within the family. Our modified protocol is easy to carry out and is practicable in all laboratories where the Southern blot procedure has been established.

Entities: Chemical Gene

Mesh：

Substances：
Oligonucleotides
DNA

Year: 1988 PMID： 2899055 DOI： 10.1007/bf00280565

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

12 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

Review 2. The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin.

Authors: M K Fagerhol; D W Cox
Journal: Adv Hum Genet Date: 1981

3. Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies.

Authors: R Williamson; J Eskdale; D V Coleman; M Niazi; F E Loeffler; B M Modell
Journal: Lancet Date: 1981-11-21 Impact factor: 79.321

3. 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

4. Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.

Authors: J P Faber; S Weidinger; K Olek
Journal: Am J Hum Genet Date: 1990-06 Impact factor: 11.025

4 in total

Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Review 2. The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin.

3. Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies.

4. Smoking, lung function, and alpha 1-antitrypsin deficiency.

5. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z.

6. Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Review 7. Structure and variation of human alpha 1-antitrypsin.

8. Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy.

9. alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

10. Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease.

1. PstI polymorphism of the alpha 1-antitrypsin-like gene.

2. The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

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

4. Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.