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Genetic polymorphism in human platelet glycoprotein GP Ib/IX/V complex is enriched in GP V (CD42d)
S Koskela1, R Kekomäki, J Partanen
1Finnish Red Cross Blood Transfusion Service, Helsinki.
Tissue Antigens
|November 5, 1998
Summary
Genetic variation in platelet receptors, including glycoprotein V (GP V), is crucial for hemostasis. This study found significant polymorphism in GP V but limited variation in GP Ib beta and GP IX.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Platelet glycoproteins Ib beta (CD42c), IX (CD42a), V (CD42d), and Ib alpha (CD42b) form a receptor essential for hemostasis.
- Genetic variations in this complex can lead to neonatal alloimmune thrombocytopenia, transfusion refractoriness, and Bernard-Soulier syndrome.
Purpose of the Study:
- To systematically screen for genetic polymorphism in the GP Ib beta, GP IX, and GP V genes.
- To determine the extent of genetic variation in these platelet receptor components.
Main Methods:
- Screening of polymorphism in GP Ib beta, GP IX, and GP V genes.
- Analysis of 50 unrelated Finnish blood donors.
- Identification and frequency determination of polymorphic sites and mutations.
Main Results:
- Nine polymorphic sites were identified in the GP V gene, with four resulting in amino acid changes and five being silent.
- Low gene frequencies (1-4%) were observed for GP V substitutions (Asp114Tyr, Met273Ile, Gly341Arg, Leu397Arg) and silent polymorphisms.
- No polymorphism was found in the GP Ib beta gene, and only one mutation was detected in the 3' untranslated region of the GP IX gene.
Conclusions:
- Genetic variation within the GP Ib/IX/V complex is predominantly found in the GP V protein.
- The GP Ib beta and GP IX components exhibit very limited genetic polymorphism.
- This suggests that GP V tolerates genetic variation, possibly due to its less defined role in the complex compared to other components.