Simple and convenient detection of a Hindlll Polymorphic site in intron 19 of factor VIII using PCR

Surin, V. L.; Zhukova, E.L.; Krutov, A. A.; Solvyev, G.Ya.; Гринева, Н. И.

doi:10.1093/nar/18.11.3432

Cited by 16 publications

(11 citation statements)

References 2 publications

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“…The Hin dIII polymorphic site in intron 19 was studied by restriction fragment length polymorphism. Samples were amplified in 20 μL of the same reaction mixture described above, together with 1.0 mmol L −1 each primer as described [13,14] and 1.0 U Taq DNA polymerase. Samples were denatured at 95 °C for 5 min prior to temperature cycling (40 cycles, denaturation at 94 °C for 25 s, annealing at 55 °C for 40 s and extension at 72 °C for 1 min, final extension at 72 °C for 5 min).…”

Section: Methodsmentioning

confidence: 99%

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

2001

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In families afflicted with haemophilia A, genetic counselling is often requested. Inversion mutations and polymorphic sites of the FVIII gene have been examined in a Brazilian population, with the aim of developing a strategy that would be accurate and informative for carrier analysis and prenatal diagnosis in Brazil. Patients with haemophilia A and families were studied. Inversion mutations in the FVIII gene were detected in 39.4% of severely affected patients, 85% of them being of distal type. No inversions were observed in patients with mild or moderate forms of the disease. Two bi-allelic polymorphisms were studied. Intron 18 SSCP and intron 19 RFLP analyses indicated the presence of a restriction site in 39.5% and 42.9% of haemophilics, respectively. Two multiallelic microsatellite polymorphisms in introns 13 and 22 were also studied; eight different alleles were detected in each system with a heterozygosity rate of 83.08% and 78.77%, respectively. When all four intragenic loci were examined in linkage analysis, the cumulative reliability was 100%. In conclusion, inversion mutation analysis should be the first-line test for Brazilian patients with severe haemophilia A. In cases of severe haemophilia A where no inversion could be detected or in mild or moderate haemophilia A, the use of all four polymorphisms is very informative for linkage analysis and should be used for carrier detection and genetic counselling in the Brazilian population.

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Section: Methodsmentioning

confidence: 99%

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

2001

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“…We tested markers located in introns 13, 19 and 22 [1][2], aiming to identify polymorphic markers that were easy to amplify and that lead to unambiguous band pattern interpretation.…”

Section: Introductionmentioning

confidence: 99%

“…In this manuscript, we analyze the usefulness of specific f8 gene polymorphisms for detecting haemophilia A carriers in the Brazilian population. We tested markers located in introns 13, 19 and 22 [1][2], aiming to identify polymorphic markers that were easy to amplify and that lead to unambiguous band pattern interpretation.…”

Section: Introductionmentioning

confidence: 99%

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

et al. 2007

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Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

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“…2). Thus, the BclI (Sarkar et al 1989), HindIII (herein, and Surin et al 1990), and intron 7 polymorphisms can be detected by P C R in an internally controlled manner. At present, the XbaI polymorphism cannot reliably be scored by P C R since there are two additional copies of closely related sequences elsewhere on the X chromosome that are also polymorphic at XbaI sites ).…”

Section: P a S A O F The Intron 7 Polymorphismmentioning

confidence: 99%

Identification of mutations in two families with sporadic hemophilia A

1991

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Direct sequencing of segments of the factor VIII gene in 30 hemophiliacs with sporadic disease (32+ kb of sequence in total) revealed two missense transitions: glutamate 1704 to lysine (E1704----K) in a patient with severe hemophilia A and proline 2300 to serine (P2300----S) in a patient with mild hemophilia. Both transitions are likely to be causative mutations because the amino acids affected were evolutionarily conserved. Haplotype and sequence analysis of the mother and grandparents of patient HA12 (E1704----K) indicate that the mutation arose in the grandfather who was 27 years old when his daughter was conceived. The origin of mutation in patient HA39 (P2300----S) could not be determined. As mutations that cause mild disease can be found in seemingly unrelated families, 96 unrelated hemophiliacs were screened rapidly for the P2300----S mutation with polymerase chain reaction (PCR) amplification of specific alleles (PASA). None of these patients had the mutation. PASA was also used to conveniently assess a polymorphic site in intron 7. The polymorphism is estimated to be informative in 13% of Korean females and in 23% of Western European females.

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Simple and convenient detection of a Hindlll Polymorphic site in intron 19 of factor VIII using PCR

Cited by 16 publications

References 2 publications

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

Identification of mutations in two families with sporadic hemophilia A

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