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RFLP Markers (rflp + marker)

Distribution by Scientific Domains

Medical Sciences	60%

Selected Abstracts

A male bovine linkage map for the ADR granddaughter design

JOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 5 2000
H. Thomsen
Summary The aim of this paper is to present the construction of a male genetic linkage map as a result of the bovine genome mapping project, which is a common effort of the German cattle breeding federation (ADR), four animal breeding institutes, three blood group laboratories and two animal data and breeding value evaluation centres. In total 20 grandsires with 1074 sires were provided from the German cattle population as reference families, 16 of these paternal half-sib groups are German Holstein families (DH), three are German Simmental (ST) families, and one is a Brown Swiss family (BS). Of 265 markers included in the linkage map, 248 were microsatellite markers, five were bovine blood group systems, eight SSCP markers and four proteins and enzymes. More than 239 000 genotypes resulted from typing the offspring for the respective markers and these were used for the construction of the map. On average 478 informative meioses were provided from each marker of the map. The summarized map length over all chromosomes was 3135.1 cM with an average interval size of 13.34 cM. About 17, 35.7 and 79.1% of the map intervals showed a maximum genetic distance between the adjacent markers of 5, 10 and 20 cM, respectively. The number of loci ranged from two (pseudoautosomal region of the sex chromosome, BTAY) to 15 (BTA23) with an average of 8.8 markers per chromosome. Comparing the length of the chromosomes shows variation from 49.6 cM for BTA26 to 190.5 cM for BTA1 with a mean of 107.7 cM for all autosomes of the genetic linkage map. It was possible to identify chromosomal discrepancies in locus order and map intervals by comparison with other published maps. The map provided sufficient marker density to serve as a useful tool for a scan of segregating quantitative trait loci. Zusammenfassung Im vorliegenden Artikel wird die Erstellung der genetischen Markerkarten für das Rindergenom im Rahmen des Genomanalyseprojektes der Arbeitsgemeinschaft Deutscher Rinderzüchter (ADR) vorgestellt. Auf der Basis des ,Granddaughter Designs' wurde ein Familienmaterial bestehend aus 20 väterlichen Halbgeschwistergruppen mit 1074 Söhnen für die Typisierung mit genetischen Markern bereitgestellt. Insgesamt 16 dieser paternalen Halbgeschwisterfamilien lassen sich der Rasse Deutsche Holsteins zuordnen, drei Familien entstammen der Rasse Deutsches Fleckvieh, und eine Familie gehört der Rasse Deutsches Braunvieh an. Dabei variiert die Anzahl der Söhne von 19,128 pro Vater. Für die Typisierung wurden 248 Mikrosatellitenmarker aus bereits publizierten Karten ausgewählt. Zusätzlich konnten 8 SSCP-und RFLP Marker, 5 Blutgruppensysteme und 4 Proteinmarker zur Entwicklung der genetischen Karte herangezogen werden. Die Anzahl der Marker variierte von 2 (pseudoautosomaler Bereich des Geschlechtschromosoms) bis 15 (Chromosom 23), wobei durchschnittlich 8.8 genetische Marker pro Chromosom typisiert wurden. Im Durchschnitt lieferten die genetischen Marker 478 informative Meiosen pro Marker. Alle Typisierungsergebnisse wurden in die Kieler Markerdatenbank übertragen und auf etwaige Fehler geprüft. Als Ergebnis konnten die genetischen Karten für alle 29 Autosomen und den pseudoautosomalen Bereich des Geschlechtschromosoms erstellt werden. Dabei wurde ein Bereich von 3135.1 cM des Rindergenoms abgedeckt, wobei die Länge des durchschnittlichen Markerintervalls 13.34 cM beträgt. Die Längen der Chromosomen zeigten eine Variation von 49.6 cM für Chromosom 26 bis zu 190.5 cM für Chromosom 1. Aufgrund der Anzahl informativer Meiosen und der Markerdichte bildet diese genetische Markerkarte in gutes Instrument für eine genomweite Suche nach segregierenden Genorten, die für die Variation von quantitativen Merkmalen verantwortlich sind. [source]

Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1p1 2010
M. KANNAN
Summary Glanzmann's thrombasthenia (GT) was diagnosed in two patients who presented with bleeding manifestations accompanied by absent platelet aggregation, secondary to adenosine-5'-diphosphate, adrenaline, arachidonic acid and collagen. Flow cytometry analysis for GPIIb/IIIa expression was done using CD61 and CD41 markers in these patients and their family members including siblings. The patients were sub typed as Type I as he had absent glycoproteins (GP) IIb/IIIa. Family studies by flow cytometry showed reduced GPII/IIIa expression in both the parents and one sibling. However, western blot showed abnormal GPIIb protein in all the family members including siblings. It is possible that abnormal GPIIb protein by western blot in family members may reflect their carrier status. Patients' DNA was analyzed for mutation in both the GPIIb and GPIIIa genes by conformational sensitive gel electrophoresis (CSGE), followed by sequencing. CSGE showed defect in exon 12 and the promoter region of GPIIb. By sequence, it was confirmed that both the mutations were homozygous one was c.1028T>C and the other one was M33320.1:g.951G>A. For one of these mutations, restriction fragment length polymorphism (RFLP) was developed to look for the same mutation in all the family members. RFLP was developed using a restriction enzyme (TspRI) against the patient's mutation, c.1028T>C in exon 12 of GPIIb gene. RFLP followed by gel electrophoresis revealed that the mutation was heterozygous in all the family members. The findings by RFLP were double confirmed by direct DNA sequencing of the exon 12 in all the family members. Thus, TspRI marker may be used as a RFLP marker to predict the carriers in GT families, if the patients' mutation status is identified. [source]

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

HAEMOPHILIA, Issue 4 2007
F. M. DE CARVALHO
Summary., Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency. [source]

Mitochondrial DNA sequence variation within and between tuna Thunnus species and its application to species identification

JOURNAL OF FISH BIOLOGY, Issue 6 2001
H. Takeyama
Restriction analysis detected two types of bigeye tuna (, and ,); the , type was in the majority in the Atlantic but nearly absent in the Indo-Pacific. The , type shared a larger number of restriction sites with other species than the conspecific , type, but bigeye-specific nucleotide substitutions with a novel diagnostic restriction profile were found. Although the nucleotide sequence difference between Atlantic and Pacific sub-species of the northern bluefin tuna was nearly the largest among species, individuals possessing the Atlantic type of mtDNA were found at very low frequency in the Pacific and vice versa. Previous RFLP markers were found to be diagnostic for the other five species (albacore, blackfin, longtail, southern bluefin and yellowfin tunas). Genetic information is provided to discriminate all Thunnus species regardless of their origin and to identify the ocean of capture in the northern bluefin and bigeye tunas. [source]

Persea americana (avocado): bringing ancient flowers to fruit in the genomics era

BIOESSAYS, Issue 4 2008
André S. Chanderbali
The avocado (Persea americana) is a major crop commodity worldwide. Moreover, avocado, a paleopolyploid, is an evolutionary "outpost" among flowering plants, representing a basal lineage (the magnoliid clade) near the origin of the flowering plants themselves. Following centuries of selective breeding, avocado germplasm has been characterized at the level of microsatellite and RFLP markers. Nonetheless, little is known beyond these general diversity estimates, and much work remains to be done to develop avocado as a major subtropical-zone crop. Among the goals of avocado improvement are to develop varieties with fruit that will "store" better on the tree, show uniform ripening and have better post-harvest storage. Avocado transcriptome sequencing, genome mapping and partial genomic sequencing will represent a major step toward the goal of sequencing the entire avocado genome, which is expected to aid in improving avocado varieties and production, as well as understanding the evolution of flowers from non-flowering seed plants (gymnosperms). Additionally, continued evolutionary and other comparative studies of flower and fruit development in different avocado strains can be accomplished at the gene expression level, including in comparison with avocado relatives, and these should provide important insights into the genetic regulation of fruit development in basal angiosperms. BioEssays 30:386,396, 2008. © 2008 Wiley Periodicals, Inc. [source]