Partial gene deletion in a family with factor X deficiency.
The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli). The proposita had a heterozygous partial deletion of the FX gene with severe deficiency of FX activity and antigen. The lesion, which was inherited from her mother, removes the 3' portion of the gene coding for the catalytic domain of the factor. In this family, two differently affected FX genes are present, leading to double heterozygosity of the proposita and thus excluding consanguinity of parents. An apparently normal gene structure was observed in the other patient with FX abnormality, suggesting the presence of a small gene lesion.
Bernardi
F
F
Centro Studi Biochimici Patologie del Genoma Umano, Università di Ferrara, Italy.
Marchetti
G
G
Patracchini
P
P
Volinia
S
S
Gemmati
D
D
Simioni
P
P
Girolami
A
A
D000483:Alleles; D001780:Blood Coagulation Tests; D002872:Chromosome Deletion; D015246:Deoxyribonuclease EcoRI; D015252:Deoxyribonucleases, Type II Site-Specific; D005170:Factor X / Q000235:genetics; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007020:Hypoprothrombinemias / Q000235:genetics*; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
D005170:Factor X; D015246:Deoxyribonuclease EcoRI; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases