To cite this article: Sumitha E, Jayandharan GR, David S, Jacob RR, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair SC, Abraham A, George B, Viswabandya A, Mathews V, Chandy M, Srivastava A. Molecular basis of Bernard–Soulier syndrome in 27 patients from India. J Thromb Haemost 2011; 9: 1590–8. Summary.  Background:  Bernard–Soulier syndrome (BSS) is an extremely rare (1:1 million) bleeding disorder of platelet adhesion, caused by defects in the glycoprotein (GP)Ib/IX/V complex. Patients and methods:  The diagnosis in 27 patients was based on low platelet count, presence of giant platelets and aggregometry studies. Flow cytometry to assess the surface GPIb/IX/V complex showed reduced (7.7–57%) expression. gDNA was screened for mutations in the GPIBA, GPIBB, GP9 genes using PCR‐conformation sensitive gel electrophoresis (CSGE). Results:  Thirteen different disease‐causing mutations, including missense (54%), frameshifts (38%) and nonsense (8%) mutations, were identified in 27 patients. Eleven of them were novel including five novel frameshifts (GPIbα: p.Gln97_98fsX113, p.Pro402_403fsX52; GPIbβ: p.Arg17fsX14; GPIX: p.Gly24fsX43, p. Pro130fs, a nonsense mutation (GPIX, p.94, Gln>X) and five novel missense mutations (GPIbα: p.492, Tyr>His; GPIbβ: p.65, Pro>Arg, p.129, Gln>His, p.132, Leu>Pro; GPIX: p.55, Phe>Cys). Interestingly, four common mutations, Cys8Arg (n = 6) and Phe55Ser (n = 2), Phe55Cys (n = 2) in GPIX and a novel 22‐bp deletion in the GPIBB gene predicting p.Arg17fsX 14 (n = 10) were seen in 20 patients. Conclusion:  The molecular data presented here is the largest series of BSS patients to be reported so far, adding significantly to the mutation database of this condition and also useful for its genetic diagnosis in India.

Bipolarity with enhanced conductivity has been achieved by tin incorporation in AgInSe 2 thin films. Structural and optical characterizations of these films prepared by reactive evaporation indicate that the incorporation neither distorts the tetragonal chalcopyrite structure nor affects the optical band gap of the parent compound. A detailed analysis of the low temperature conductivity of AgInSe 2 (AIS) and tin incorporated AgInSe 2 (AIS:Sn) suggests domination by variable range hopping, grain boundary effect, and thermal activation of carriers in different temperature regimes. The enhanced conductivity in AIS:Sn is attributed to donor and acceptor defect level formation, which has pushed the Fermi levels to ∼9 meV below the conduction band edge in n-type films and ∼3 meV above the valence band edge in p-type films. These improved characteristics of the films are likely to promote their suitability for photovoltaic and thermoelectric power generation applications.

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Our results show that the test performance improved with the employment of two Y-amplification assays.

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