HAGEMAN TRAIT INVESTIGATED BY FACTOR XII cDNA PROBES

1987 ◽  
Author(s):  
S Volinia ◽  
P Patracchini ◽  
F Vannini ◽  
L Felloni ◽  
F Panicucci ◽  
...  
Keyword(s):  
Fragment Length ◽  
Gene Deletion ◽  
Coagulation Factor ◽  
Normal Subjects ◽  
Factor Xii ◽  
Chromosome 6 ◽  
Paternal Lineage ◽  
Length Polymorphisms ◽  
Abnormal Pattern ◽  
Restriction Fragment Length

The presence of gene lesions and of restriction fragment length polymorphisms (RFLPs) has been investigated by means of cDNA probes for the coagulation factor XII (FXII).A TaqI additional fragment (2.1Kb) has been found in two brothers with Hageman trait and in 11 members of their paternal lineage. Digestions with different enzymes exclude that FXII gene deletion is responsible for Hageman trait in this family. A point mutation originating an additional TaqI site is likely.The abnormal pattern (not present in 40 normal subjects) is correlated with a reduced FXII activity and identifies the heterozygous subjects in the paternal lineage. The presence of two different gene lesions causing Hageman trait in this family can be inferred.The TaqI additional site has been mapped within the 5 portion of the gene.Data suggest the presence of one FXII gene per aploid genome and disagree with previous localization of FXII gene on chromosome 6.Work supported by P.F. Ing. Gen. e Basi Mol. Mai. Ered. contratto CNR N.8400877

scholarly journals Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

Blood ◽  
1987 ◽  
Vol 69 (5) ◽  
pp. 1421-1424 ◽  
Author(s):  
F Bernardi ◽  
G Marchetti ◽  
P Patracchini ◽  
L del Senno ◽  
M Tripodi ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Normal Population ◽  
Coagulation Factor ◽  
Polymorphic Site ◽  
Restriction Map ◽  
Factor Xii ◽  
Polymorphic Fragment ◽  
Paternal Lineage ◽  
Factor Xii Deficiency ◽  
Length Polymorphisms

Abstract A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5′ portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

scholarly journals Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme

Blood ◽  
1987 ◽  
Vol 69 (5) ◽  
pp. 1421-1424
Author(s):  
F Bernardi ◽  
G Marchetti ◽  
P Patracchini ◽  
L del Senno ◽  
M Tripodi ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Normal Population ◽  
Coagulation Factor ◽  
Polymorphic Site ◽  
Restriction Map ◽  
Factor Xii ◽  
Polymorphic Fragment ◽  
Paternal Lineage ◽  
Factor Xii Deficiency ◽  
Length Polymorphisms

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5′ portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Studies of the parathyroid hormone gene in normal subjects, and in subjects with primary hyperparathyroidism and familial benign hypercalcaemia

1987 ◽  
Vol 115 (1) ◽  
pp. 183-186 ◽  
Author(s):  
G. M. Almahroos ◽  
K. Docherty ◽  
J. A. Fletcher ◽  
T. Webb ◽  
D. A. Heath
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Restriction Fragment ◽  
Fragment Length ◽  
Cdna Probe ◽  
Normal Subjects ◽  
Restriction Fragment Length Polymorphisms ◽  
German Population ◽  
Length Polymorphisms ◽  
Restriction Fragment Length

ABSTRACT Familial benign hypercalcaemia (FBH) closely resembles primary hyperparathyroidism (PHPT) both clinically and biochemically. Using a cDNA probe for the parathyroid hormone (PTH) gene we have studied restriction fragment length polymorphisms in normal British subjects and have shown them to be similar to those found in previous studies in a German population. The pattern of inheritance of these restriction fragment length polymorphisms in a family with FBH shows that the PTH gene is not involved in the pathogenesis of the condition. Limited studies in PHPT indicate that it is unlikely that a major structural defect or rearrangement is responsible for the sporadic form of the disease. J. Endocr. (1987) 115, 183–186

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

Nature ◽  
1985 ◽  
Vol 313 (6005) ◽  
pp. 815-817 ◽  
Author(s):  
Rima Rozen ◽  
Joyce Fox ◽  
Wayne A. Fenton ◽  
Arthur L. Horwich ◽  
Leon E. Rosenberg
Keyword(s):  
Restriction Fragment ◽  
Fragment Length ◽  
Gene Deletion ◽  
Restriction Fragment Length Polymorphisms ◽  
Ornithine Transcarbamylase ◽  
Length Polymorphisms ◽  
Restriction Fragment Length

scholarly journals A genetic linkage map for the domesticated silkworm, Bombyx mori, based on restriction fragment length polymorphisms

1995 ◽  
Vol 66 (2) ◽  
pp. 109-126 ◽  
Author(s):  
Jinrui Shi ◽  
David G. Heckel ◽  
Marian R. Goldsmith
Keyword(s):  
Linkage Map ◽  
Bombyx Mori ◽  
Restriction Fragment ◽  
Fragment Length ◽  
Restriction Fragment Length Polymorphisms ◽  
Genetic Maps ◽  
Crossing Over ◽  
Linkage Groups ◽  
Length Polymorphisms ◽  
Restriction Fragment Length

SummaryWe present data for the initial construction of a molecular linkage map for the domesticated silkworm, Bombyx mori, based on 52 progeny from an F2 cross from a pair mating of inbred strains p50 and C108, using restriction fragment length polymorphisms (RFLPs). The map contains 15 characterized single copy sequences, 36 anonymous sequences derived from a follicular cDNA library, and 10 loci corresponding to a low copy number retrotransposon, mag. The 15 linkage groups and 8 ungrouped loci account for 23 of the 28 chromosomes and span a total recombination length of 413 cM; 10 linkage groups were correlated with established classic genetic maps. Scoring data from Southern blots were analysed using two Pascal programs written specifically to analyse linkage data in Lepidoptera, where females are the heterogametic sex and have achiasmatic meiosis (no crossing-over). These first examine evidence for linkage by calculating the maximum lod score under the hypothesis that the two loci are linked over the likelihood under the hypothesis that the two loci assort independently, and then determine multilocus linkage maps for groups of putatively syntenic loci by calculating the maximum likelihood estimate of the recombination fractions and the log likelihood using the EM algorithm for a specified order of loci along the chromosome. In addition, the possibility of spurious linkage was exhaustively tested by searching for genotypes forbidden by the absence of crossing-over in one sex.

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