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Article

Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.

Thrombosis research - 1 Aug 1991

Matsushita T, Tanimoto M, Yamamoto K, Sugiura I, Takamatsu J, Kamiya T, Saito H

Abstract excerpt

Rapid direct detection of point mutations in hemophilia B kindreds was performed by analyzing the restriction fragments of the factor IX gene amplified by polymerase chain reaction (PCR). The family members of the two patients, HB 5 and HB 6, whose mutant factor IX gene had previously been defined by sequence analysis, were examined in this study. Since there are no restriction endonucleases available for...

Topics

Alleles
Base Sequence
Deoxyribonucleases, Type II Site-Specific
Factor IX
Female
Genetic Carrier Screening
Hemophilia B
Humans
Male
Molecular Sequence Data
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1683496
DOI: 10.1016/0049-3848(91)90138-m

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1683496-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.PMID 1683496Read ↗

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