Factor IX[sub Madrid 2]: A deletion/insertion in Facotr IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:6913925
- Unidades de Genetica Molecular, Madrid (Spain)
- Hemofilia Hospital, Madrid (Spain)
- Departamento deBioquimica de la Facultad de Medicina de la Universidad Autonoma, Madrid (Spain)
DNA from a patient with severe hemophilia B was evaluated by RFLP analysis, producing results which suggested the existence of a partial deletion within the factor IX gene. The deletion was further localized and characterized by PCR amplification and sequencing. The altered allele has a 4,442-bp deletion which removes both the donor splice site located at the 5[prime] end of intron d and the two last coding nucleotides located at the 3[prime] end of exon IV in the normal factor IX gene; this fragment has been inserted in inverted orientation. Two homologous sequences have been discovered at the ends of the deleted DNA fragment.
- OSTI ID:
- 6913925
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:2; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
550200* -- Biochemistry
59 BASIC BIOLOGICAL SCIENCES
BLOOD COAGULATION
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DISEASES
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
GENE MUTATIONS
HEMIC DISEASES
HEMOPHILIA
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
HYBRIDIZATION
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PATIENTS
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME
59 BASIC BIOLOGICAL SCIENCES
BLOOD COAGULATION
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DISEASES
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
GENE MUTATIONS
HEMIC DISEASES
HEMOPHILIA
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
HYBRIDIZATION
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PATIENTS
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME