Prenatal diagnosis of Glanzmann thrombasthenia.

Simple item page
dc.contributor.authorSrivastava, Aloken_US
dc.contributor.authorUsher, Salyen_US
dc.contributor.authorNelson, Everette J Ren_US
dc.contributor.authorJayandharan, Gen_US
dc.contributor.authorShaji, Ramachandran Ven_US
dc.contributor.authorChandy, Mammenen_US
dc.contributor.authorSeligsohn, Urien_US
dc.contributor.authorPeretz, Havaen_US
dc.date.accessioned2003-07-11en_US
dc.date.accessioned2009-06-03T05:47:08Z
dc.date.available2003-07-11en_US
dc.date.available2009-06-03T05:47:08Z
dc.date.issued2003-07-11en_US
dc.description.abstractBACKGROUND: Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet function, which results in major morbidity due to persistent, spontaneous, mucocutaneous bleeding and menorrhagia in women. Platelet transfusions are often needed to control the bleeding. Glanzmann thrombasthenia results from mutations in the genes located on chromosome 17q21-23, encoding the platelet glycoprotein (GP) IIb/IIIa receptor. METHODS: This report describes, for the first time in India, the prenatal diagnosis performed in a family who had a child with GT. As the molecular defect had not been identified at the time of chorionic villus sampling (CVS), prenatal diagnosis was done by linkage assessment. Haplotype analysis was performed using polymorphic markers on chromosome 17q 12-21, which included the dinucleotide repeat polymorphisms (CA)n in BRCA1 gene and locus D17S579 and (CT)n within GP IIIa intron 6, and the known restriction fragment length polymorphism (RFLP) markers Fok I (GP IIb exon 26), Taq I (GP IIIa exon 8) and Sma I (GP IIIa exon 9). The specific mutation in this family was subsequently confirmed. RESULTS: Both parents and the foetus were heterozygous for all the dinucleotide repeat polymorphisms and the affected child was homozygous. Both parents and the affected child were homozygous for Fok I RFLP. The father was heterozygous, and the mother, affected child and foetus were homozygous for Taq I and Sma I. The Fok I RFLP was identical for all the family members and hence did not provide any information for haplotype analysis (foetus not tested). CONCLUSION: The findings from dinucleotide repeat polymorphisms in BRCA1, D17S579, and GP IIIa intron 6 and the Sma I and Taq I RFLPs in GP IIIa strongly suggested that the foetus had inherited the father's mutant and the mother's normal alleles. Hence, the foetus was diagnosed to be a heterozygous carrier of GT by haplotype analysis. A private sequence alteration was later identified in the affected child in GP IIIa IVS1 (-14C --> A). The parents and foetus were heterozygous for this mutation. This confirmed the findings of the haploytpe analysis.en_US
dc.description.affiliationDepartment of Haematology, Christian Medical College, Vellore 632004, Tamil Nadu, India. aloks@cmcvellore.ac.inen_US
dc.identifier.citationSrivastava A, Usher S, Nelson EJ, Jayandharan G, Shaji RV, Chandy M, Seligsohn U, Peretz H. Prenatal diagnosis of Glanzmann thrombasthenia. National Medical Journal of India. 2003 Jul-Aug; 16(4): 207-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/118604
dc.language.isoengen_US
dc.source.urihttps://www.nmji.inen_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Techniquesen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshMaleen_US
dc.subject.meshPrenatal Diagnosis --methodsen_US
dc.subject.meshThrombasthenia --diagnosisen_US
dc.titlePrenatal diagnosis of Glanzmann thrombasthenia.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
National Medical Journal of India