Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8

Grouchy, J. de; Dautzenberg, Marie-Dominique; Turleau, C; Béguin, S.; Chavin-Colin, F

doi:10.1007/bf00286607

Cited by 45 publications

(23 citation statements)

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“…The present results of an about 50~ deficiency of F7 and F10 in Cases 1 and 2 confirms previous observations that the structual genes of F7 and FI0 are located on the long arm of chromosome 13 (13q34) (Pfeiffer et al, 1982;de Grouchy et al, 1984;Ott and Pfeiffer, 1984).…”

Section: Discussionsupporting

confidence: 92%

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Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

1987

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SummaryCoagulation factors VII (F7) and X (F10) were investigated in three patients with terminal deletion of 13q [46,XX, del(13)(q32)], a patient with complete 13 trisomy and a patient with a balanced X;13 translocation [46,X,t(X;13)(pll.21;q12.3)]. Though a patient of terminal 13q-syndrome had normal activities of F7 and F10, the other two patients showed an about 50~ deficiency for them. A patient with 13 trisomy and a patient with a X; 13 translocation had normal activities of F7 and F10. A 13q-syndrome patient with normal values of coagulation factors VII and X might have an intact terminal portion of chromosome 13, which is not apparent by R-banding. |NTRODUCTIONThe structural genes ef coagulation factors VII (F7) and X (F10) were assigned to the long arm of chromosome 13 (13q34) (HGM8, 1985). Pfeiffer et al. (1982( ), de Grouchy et al. (1984 and Ott and Pfeiffer (1984) reported patients of 13q34 deletion affected with deficiency of F7 and F10 activity. We analyzed activity and antigen of F7 and F10 in 5 patients with abnormal chromosome 13. The purpose of this work was to present data on expression of activities of F7 and F10 in various abnormality of chromosome l 3.

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Section: Discussionsupporting

confidence: 92%

“…Pfeiffer et al (1982), de Grouchy et al (1984 and Ott and Pfeiffer (1984) reported patients of 13q34 deletion affected with deficiency of F7 and F10 activity. We analyzed activity and antigen of F7 and F10 in 5 patients with abnormal chromosome 13.…”

Section: Ntroductionmentioning

confidence: 99%

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

1987

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“…The FVII gene is located on chromosome 13 (13q34-qter), next to the FX gene, 13,14 and comprises 9 exons and 8 introns. 15 A polymorphic minisatellite, consisting of a variable number of 37-nucleotide tandem repeats, spans the 3Ј end of exon 7 and the 5Ј portion of intron 7, 7 and the first repeat contains the donor splice site for the excision of intron 7.…”

Section: Introductionmentioning

confidence: 99%

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation

Castoldi

Govers‐Riemslag

Pinotti

et al. 2003

Blood

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We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype in severe factor VII (FVII) deficiency. Among 7 patients homozygous for a cross-reacting materialnegative (CRM ؊ ) FVII defect (9726؉5G>A, FVII Lazio), the only asymptomatic individual carried FV Leiden. Differential modulation of FVII levels by intragenic polymorphisms was excluded by a FVII to factor X (FX) gene haplotype analysis. The coagulation efficiency in the FV Leiden carrier and a noncarrier was evaluated by measuring FXa, FVa, and thrombin generation after extrinsic activation of plasma in the absence and presence of activated protein C (APC). In both patients coagulation factor activation was much slower and resulted in significantly lower amounts of FXa and thrombin than in a normal control. However, more FXa and thrombin were formed in the plasma of the patient carrying FV Leiden than in the noncarrier, especially in the presence of APC. These results were confirmed in FV-FVII doubly deficient plasma reconsti- IntroductionCoagulation factor VII (FVII) is a vitamin K-dependent glycoprotein that plays a key role in the initiation of coagulation. 1 Following vascular damage, membrane-bound tissue factor (TF) forms a Ca 2ϩ -dependent complex either with FVII (which is then converted to FVIIa by a single proteolytic cleavage) or directly with circulating FVIIa, present in blood at a very low concentration. TF-bound FVIIa activates factor X (FX) to FXa, which, together with its cofactor factor Va (FVa), converts prothrombin to thrombin. In addition, the TF/FVIIa complex can also activate factor IX to FIXa, which, after forming a complex with factor VIIIa (FVIIIa), contributes to FXa generation and thereby to thrombin formation via the intrinsic pathway. In plasma, the activity of the TF/FVIIa complex is down-regulated by the tissue factor pathway inhibitor (TFPI), which acts via the formation of a quaternary complex with FXa, FVIIa, and TF. 2 Thrombin generation is ultimately shut down by activated protein C (APC), which proteolytically inactivates FVa and FVIIIa, the essential cofactors of the prothrombin-and intrinsic FX-activating complexes. 3 Severe FVII deficiency 4,5 affects about 1 in 500 000 individuals in the general population and is inherited as an autosomal recessive trait with variable penetrance. Severely affected patients may develop life-threatening hemorrhages and require substitutive treatment with plasma concentrates or recombinant FVIIa. 6 Several intragenic mutations that impair gene expression or protein secretion (CRM Ϫ deficiency) or alter protein function (CRM ϩ deficiency) have been described (FVII Mutation Database, http://europium.csc.mrc.ac.uk). Moreover, a few intragenic polymorphisms 7-10 that modulate plasma levels of FVII 8,[10][11][12] are known.The FVII gene is located on chromosome 13 (13q34-qter), next to the FX gene, 13,14 and comprises 9 exons and 8 introns. 15 A polymorphic minisatellite, consisting of a variable number of 37-nucleotide tandem repeats, spans the 3Ј ...

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“…Furthermore, her cytogenetic findings were informative in determining the localization of these coagulation factor genes at the subband level. The combination of various al., 1984;Gilgenkrantz et al, 1986). Although overt deletion of the long arm Vol.…”

Section: Mapping Of Genes Encoding Coagulation Factors VIImentioning

confidence: 99%

“…Subsequent investigations on patients with various abnormalities of chromosome 13 have confirmed that monosomy for the 13q34 segment produced a 50~ decrement (de Grouchy et al, 1984;Gilgenkrantz et al, 1986;Fukushima et al, 1987) while trisomy for the same segment led to a 50~ increment (Gilgenkrantz et al, 1986) in plasma FVII and FX levels. In addition, Scambler and Williamson (1985) have demonstrated on Southern blot analysis of DNA from patients with monosomy for 13q34 using a cloned human F10 gene that the low ,expression of FX resulted from loss of one copy of the F10 structural genes.…”

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confidence: 93%

Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13)

Kasai¹,

Narahara

Namba

et al. 1989

Jap J Human Genet

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To the Editor:The mapping of genes encoding blood coagulation factors VII (F7) and X (F10) to the 13q34 segment was first suggested by Pfeiffer et al. (1982) on the basis of observations of reduced plasma FVII and FX levels in two patient with a deletion involving the 13q34 segment. Subsequent investigations on patients with various abnormalities of chromosome 13 have confirmed that monosomy for the 13q34 segment produced a 50~ decrement (de Grouchy et al., 1984;Gilgenkrantz et al., 1986;Fukushima et al., 1987) while trisomy for the same segment led to a 50~ increment (Gilgenkrantz et al., 1986) in plasma FVII and FX levels. In addition, Scambler and Williamson (1985) have demonstrated on Southern blot analysis of DNA from patients with monosomy for 13q34 using a cloned human F10 gene that the low ,expression of FX resulted from loss of one copy of the F10 structural genes. Although the loci for F7 and F10 are assumed to form a coagulation gene cluster in this region, localization remains to be detailed at the subband level. In this letter, we describe results of a gene dose study for F7 and F10 in a 3 year 9 month-old female patient with a ring chromosome 13 in which the breakpoint was located at the distal portion of the 13q34 band.The patient was born at term to a 30-year-old mother and an unrelated 32-year-old father. The pregnancy was uneventful, but the delivery was complicated by bleeding due to placenta praevia. The birth weight was 2,264 g. Because of neonatal asphyxia, she was cared for in an incubator for 2 days. Her psychomotor development was slow: head control at 4 months, sitting without support at 1 year 10 months and walking alone at 2 years 7 months. At the age of 3 years 9 months, her body weight was 12 kg (-1.7 S.D.), the height 93.0 cm (-1.1 S.D.) and the head circumference 43.5 cm (-3.6 S.D.). She was found to have microcephaly, long and narrow palpebral fissures, prominent nasal bridge, protruding maxilla, thin lips, anterior displacement of the anus, proximal implantation of the thumbs and bilateral short fifth fingers. Her 2nd and 4th toes overlapped onto the 3rd toes bilaterally. Examinations of the chest and abdomen showed no abnormality. There was no antecedent history of bleeding disorder, and liver function tests yielded normal results.Conventional cytogenetic study of peripheral blood lymphocytes from the

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Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8

Cited by 45 publications

References 9 publications

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation

Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13)

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Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8

Cited by 45 publications

References 9 publications

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G&gt;A (FVII Lazio) mutation

Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13)

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Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation