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Literature DB >> 2886419

A new HindIII restriction fragment length polymorphism in the hemophilia A locus.

P Ahrens, T A Kruse, M Schwartz, P B Rasmussen, N Din.

Abstract

Using a fragment of the cDNA for human coagulation factor VIII as a hybridization probe, we have detected a new polymorphic HindIII site in intron 19 of the factor VIII gene. The frequency of the minor allele is 0.30. This polymorphism shows strong linkage disequilibrium with a previously described BclI polymorphism in intron 18.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1987 PMID： 2886419 DOI： 10.1007/bf00284907

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

7 in total

1. A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

Authors: K L Wion; E G Tuddenham; R M Lawn
Journal: Nucleic Acids Res Date: 1986-06-11 Impact factor: 16.971

2. Factor VIII gene specific probe for prenatal diagnosis of haemophilia A.

Authors: N Din; M Schwartz; T Kruse; S R Vestergaard; P Ahrens; D Caput; K Hartog; M Quiroga
Journal: Lancet Date: 1985-06-22 Impact factor: 79.321

3. Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe.

Authors: J Gitschier; R M Lawn; F Rotblat; E Goldman; E G Tuddenham
Journal: Lancet Date: 1985-05-11 Impact factor: 79.321

4. Characterization of the human factor VIII gene.

Authors: J Gitschier; W I Wood; T M Goralka; K L Wion; E Y Chen; D H Eaton; G A Vehar; D J Capon; R M Lawn
Journal: Nature Date: 1984 Nov 22-28 Impact factor: 49.962

5. Prenatal diagnosis of haemophilia A by factor VIII gene analysis.

Authors: S E Antonarakis; K L Copeland; R J Carpenter; C A Carta; L W Hoyer; C T Caskey; J J Toole; H H Kazazian
Journal: Lancet Date: 1985-06-22 Impact factor: 79.321

6. Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Authors: S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal: N Engl J Med Date: 1985-10-03 Impact factor: 91.245

7. Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA.

Authors: M A Truett; R Blacher; R L Burke; D Caput; C Chu; D Dina; K Hartog; C H Kuo; F R Masiarz; J P Merryweather
Journal: DNA Date: 1985-10

7 in total

8 in total

A new HindIII restriction fragment length polymorphism in the hemophilia A locus.

1. A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

2. Factor VIII gene specific probe for prenatal diagnosis of haemophilia A.

3. Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe.

4. Characterization of the human factor VIII gene.

5. Prenatal diagnosis of haemophilia A by factor VIII gene analysis.

6. Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

7. Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA.

1. Simple and convenient detection of a HindIII polymorphic site in intron 19 of factor VIII using PCR.

2. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

Review 3. Haemophilia A and haemophilia B: molecular insights.

Review 4. Haemophilia A and haemophilia B: molecular insights.

Review 5. Haemophilia: strategies for carrier detection and prenatal diagnosis.

Review 6. The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B.

7. Identification of mutations in two families with sporadic hemophilia A.

8. Genetic analysis of haemophilia A in Bulgaria.