Carrier Detection in Severe (Type III) von Willebrand Disease Using Two Intragenic Restriction Fragment Length Polymorphisms

1988 ◽  
Vol 60 (02) ◽  
pp. 178-181 ◽  
Author(s):  
B R Bahnak ◽  
J M Lavergne ◽  
C L Verweij ◽  
C Rothschild ◽  
H Pannekoek ◽  
...  
Keyword(s):  
Restriction Fragment ◽  
Fragment Length ◽  
Cdna Probe ◽  
Restriction Fragment Length Polymorphisms ◽  
Polymorphic Band ◽  
Type Iii ◽  
Length Polymorphisms ◽  
Genotypic Analysis ◽  
Severe Type ◽  
Restriction Fragment Length

SummaryDNA from a family with a female member affected with severe (type III) vWD was analysed using three restriction enzymes and a partial vWF cDNA probe. Two restriction fragment length polymorphisms (RFLPs) detected with the enzymes Bgl II and Xba I proved to be informative in this family. A 36.0 Kb allele, demonstrated with the enzyme Xba I was rare in the general population but very important in this family for segregation analysis of the alleles and their association with the putative defective chromosome. The propositus was homozygous for the 36.0 Kb Xba I polymorphic band and heterozygous for the Bgl II polymorphism. She was the only member of the family showing this allelic pattern. The linkage of the alleles could be determined because her mother was homozygous for the 9.0 Kb Bgl II polymorphism but heterozygous for the Xba I polymorphism. The segregation of the alleles could be traced to the proband’s son and a niece. The genotypic analysis revealed that her niece could be considered as carrying a defective gene for severe vWD.

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

scholarly journals The application of genotyping techniques to the epidemiological analysis ofCampylobacter jejuni

1996 ◽  
Vol 117 (2) ◽  
pp. 233-244 ◽  
Author(s):  
C. J. Jackson ◽  
A. J. Fox ◽  
D. R. A. Wareing ◽  
D. N. Hutchinson ◽  
D. M. Jones
Keyword(s):  
Restriction Fragment ◽  
Fragment Length ◽  
Restriction Fragment Length Polymorphisms ◽  
Rrna Gene ◽  
Epidemiological Typing ◽  
Length Polymorphisms ◽  
Genotypic Analysis ◽  
Ofcampylobacter Jejuni ◽  
Reference Strains ◽  
Restriction Fragment Length

SummaryCampylobacter jejuniserogroup reference strains and collections of sporadic and outbreak- associated isolates were examined for restriction fragment length polymorphisms (RFLPs), usingC. jejunirandom chromosomal and 16S rRNA gene probes. A collection of 48 Penner (HS) and 14 Lior (HL) serogroup reference strains, plus 10 clinical isolates, generated 35 RFLP and 26 ribotype patterns. In combination the two loci generated 48 distinct genotypes. Both probes were able to differentiate between certain random isolates of the same HS/HL serogroups but greater discrimination was obtained with RFLP than with ribotyping. Genotyping distinguished accurately between related and unrelated strains when applied to several outbreaks. Genotypic analysis ofC. jejuniby restriction fragment length polymorphisms is a valuable technique for epidemiological typing. Chromosomal variation detected by the two unlinked probe loci provides some information about the genetic relationship between isolates.

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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