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 · Sat Feb 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6913925

Solera, J ^[1]; Magallon, M; Martin-Villar, J ^[2]; Coloma, A ^[3]

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1. Unidades de Genetica Molecular, Madrid (Spain)
2. Hemofilia Hospital, Madrid (Spain)
3. 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

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