Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

Dl, French; Coller, BS; Usher, Sali; Rs, Berkowitz; Eng, Charis; Seligsohn, Uri; Peretz, Hava

doi:10.1046/j.1365-2141.1998.00798.x

Cited by 34 publications

(24 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PCR has also permitted rapid and unequivocal carrier determination and DNA-based prenatal diagnosis (by direct gene analysis and by linkage) using amniotic fluid or chorionic villus samples 87 (reviewed in Wautier and Gruel 88 ). Since the latter can be obtained at approximately 11 weeks of gestation, the information can be provided to families much earlier than it previously could using mAb-based and functional studies of blood obtained by percutaneous umbilical cord blood sampling at approximately 20 weeks of gestation.…”

Section: Application Of Molecular Biologymentioning

confidence: 99%

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

Coller

Shattil

2008

Blood

313

342

View full text Add to dashboard Cite

Starting 90 years ago with a clinical description by Glanzmann of a bleeding disorder associated with a defect in platelet function, technologic advances helped investigators identify the defect as a mutation(s) in the integrin family receptor, ␣IIb␤3, which has the capacity to bind fibrinogen (and other ligands) and support platelet-platelet interactions (aggregation). The receptor's activation state was found to be under exquisite control, with activators, inhibitors, and elaborate inside-out signaling mechanisms controlling its conformation. Structural biology has produced high-resolution images defining the ligand binding site at the atomic level. Research on ␣IIb␤3 has been bidirectional, with basic insights resulting in improved Glanzmann thrombasthenia carrier detection and prenatal diagnosis, assays to identify single nucleotide polymorphisms responsible for alloimmune neonatal thrombocytopenia, and the development of ␣IIb␤3 antagonists, the first rationally designed antiplatelet agents, to prevent and treat thrombotic cardiovascular disease. The future looks equally bright, with the potential for improved drugs and the application of gene therapy and stem cell biology to address the genetic abnormalities. The ␣IIb␤3 saga serves as a paradigm of rigorous science growing out of careful clinical observations of a rare disorder yielding both important new scientific information and improved diagnosis, therapy, and prevention of other disorders. (Blood. 2008;112: 3011-3025) Introduction"Thus blood, for all its raw physicality, its heat, color and smell, remains first and foremost a powerfully symbolic substancecapable of representing the most primeval forces of life, and of death." 1 "… for the blood is life …" Deuteronomy 12:23To celebrate the 50th anniversary of Blood, we offer an historical account of research on our favorite receptor on the platelet surface, GPIIb/IIIa, or integrin ␣IIb␤3. This receptor plays an important role in hemostasis and thrombosis, and in accord with the quotations above, both processes have profound effects on life and health. The origin of the English word blood is uncertain. It may derive from a postulated Indo-European root bhel, "bloom" or "sprout," and it has been speculated that "ancient people looked upon the effusion from incised skin as a sort of blooming," 2 an image well known to practitioners of the bleeding time.The dominant theme in this review is how improved understanding of the structure and function of ␣IIb␤3 has led to opportunities to translate that knowledge into biomedical advances, including the development of ␣IIb␤3 antagonists, the first class of rationally designed antiplatelet agents. The subtheme is how advances in scientific technology deriving from discoveries in other fields have been crucial to improving our understanding of ␣IIb␤3. Figure 1 is a timeline depicting, by category, approximately when different technologies were introduced into the investigation of blood platelets and/or ␣IIb␤3. Thus, as with a musical fugue, we will try to tell 2 sto...

show abstract

Section: Application Of Molecular Biologymentioning

confidence: 99%

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

Coller

Shattil

2008

Blood

313

342

View full text Add to dashboard Cite

show abstract

“…Two short tandem repeats (STRs) flanking the ITGA2B gene on chromosome 17 were also selected in THRA and BRCA1 genes. 18 These STRs consist of tandemly repeated dinucleotide (CA) sequences. Alleles were named using an arbitrary scale for the observed fragment length of the microsatellites.…”

Section: Haplotype Analysismentioning

confidence: 99%

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

Fiore¹,

Pillois²,

Nurden³

et al. 2011

Eur J Hum Genet

View full text Add to dashboard Cite

The c.1544+1G4A substitution at the 5¢ splice donor site of intron 15 of the ITGA2B gene, called the French Gypsy mutation, causes Glanzmann thrombasthenia, an inherited hemorrhagic disorder transmitted as an autosomal recessive trait and characterized by an altered synthesis of the platelet aIIbb3 integrin. So far, this mutation has only been found in affected individuals originating from French Manouche families, strongly suggesting a founder effect. Our goal was to investigate the origin of the French Gypsy mutation. We estimated the age of the mutation by a likelihood-based method that uses the length of the shared haplotypes among a set of patients. For this, we genotyped 23 individuals of Manouche origin; consisting of 9 Glanzmann thrombasthenia patients homozygous for the French Gypsy mutation, 6 heterozygous carriers and 8 homozygous wild-type individuals. They were genotyped for four single-nucleotide polymorphisms using high-resolution melting curve analysis, and for two CA repeats in the BRCA1 and THRA genes at chromosome 17, using fragment analysis gels. We found that a haplotype of five polymorphic loci covering a 4-cM region was strongly associated with the French Gypsy mutation, suggesting a founder effect. The estimated age of this founder mutation was 300-400 years (range 255-552 years). Thus, all carriers of the French Gypsy mutation c.1544+1G4A at intron 15 descended from a common ancestor 300-400 years ago.

show abstract

“…We went on to use these antibodies in translational studies in collaboration with Drs. Deborah French, Peter Newman, and Uri Seligsohn on the diagnosis of GT, including prenatal diagnosis (18,(22)(23)(24)(25)(26)(27)(28)(29)(30)(31). In particular, we studied a large number of patients from the Iraqi-Jewish population living in Israel.…”

Section: Figurementioning

confidence: 99%

Translating from the rivers of Babylon to the coronary bloodstream

Coller¹

2012

J. Clin. Invest.

View full text Add to dashboard Cite

Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

Cited by 34 publications

References 34 publications

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families

Translating from the rivers of Babylon to the coronary bloodstream

Contact Info

Product

Resources

About