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), Vol. 50:2; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Modulation of splicing of the preceding intron by antisense oligonucleotide complementary to intra-exon sequence deleted in dystrophin Kobe
A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin
The human decorin gene: Intron-exon organization, discovery of two alternatively spliced exons in the 5[prime] untralsated region, and mapping of the gene to chromosome 12q23
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:6913925
+1 more
A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin
Journal Article
·
Mon Jul 15 00:00:00 EDT 1991
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:6913925
+4 more
The human decorin gene: Intron-exon organization, discovery of two alternatively spliced exons in the 5[prime] untralsated region, and mapping of the gene to chromosome 12q23
Journal Article
·
Fri Jan 01 00:00:00 EST 1993
· Genomics; (United States)
·
OSTI ID:6913925
+3 more
Related Subjects
59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
MOLECULAR BIOLOGY
RFLPS
DNA HYBRIDIZATION
BLOOD COAGULATION
CHROMOSOMAL ABERRATIONS
DNA
DNA SEQUENCING
HEMOPHILIA
HUMAN X CHROMOSOME
PATIENTS
CHROMOSOMES
DISEASES
HEMIC DISEASES
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME
550200* - Biochemistry
GENE MUTATIONS
MOLECULAR BIOLOGY
RFLPS
DNA HYBRIDIZATION
BLOOD COAGULATION
CHROMOSOMAL ABERRATIONS
DNA
DNA SEQUENCING
HEMOPHILIA
HUMAN X CHROMOSOME
PATIENTS
CHROMOSOMES
DISEASES
HEMIC DISEASES
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME
550200* - Biochemistry