Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation‐dependent probe amplification (MLPA)

Abstract

To cite this article: Lee S-T, Kim H-J, Kim D-K, Schuit RJL, Kim S-H. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA). J Thromb Haemost 2008; 6: 701-3.

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency

“…Indeed, several point mutations affecting the C-terminal region of AT after amino acid 384 were previously identified in patients with type I AT deficiency (Lane et al 1997) indicating that integrity of the C-terminal sequence is necessary for correct synthesis and secretion of the protein. In addition, type I AT deficiency is associated with each of the two other exon 6 deletions already reported (Olds et al 1993;Lee et al 2008).…”

“…A review of the literature indicates that 10 whole gene and 14 partial large ([100 bp) SERPINC1 deletions and one duplication have been already observed (Bock and Prochownik 1987;Olds et al 1993;Emmerich et al 1994;Lane et al 1997;Jochmans et al 1998;Beauchamp et al 2000;Pavlova et al 2006;Lee et al 2008). None of the whole gene but five of the partial deletions were fully characterised (Fig.…”

Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation‐dependent probe amplification

“…Yin et al [12] first described a large deletion mutation in PROS1 using MLPA. Recently, our group also reported antithrombin deficiency from large deletion mutations of the SERPINC1 gene detected by MLPA [13]. As the recent line of evidence indicates that large rearrangement mutations of PROS1 could account for a significant proportion of genetic mechanisms underlying inherited PS deficiency, the molecular technique to detect these large mutations should be employed as the secondline genetic test when no point mutations are found on direct sequencing.…”

P-selectin Expression Tracks Cerebral Atrophy in Mexican-Americans

“…Previously, we hypothesized that P-selectin ( SELP ) gene was a likely contributor to the variations in BP and brain atrophy BP (Kochunov et al, 2010b, 2011a). Elevated platelet P-selectin expression level is a marker of endothelial dysfunction (Nomura et al, 2009) and is positively correlated with systolic BP, pulse pressure, and diagnosis of hypertension (Lee et al, 2008; Reiner et al, 2008; Nomura et al, 2009). Common SELP sequence variants also explain a significant proportion of individual variability in the soluble P-selectin protein levels, even after correcting for environmental factors such as smoking (Lee et al, 2008; Reiner et al, 2008).…”

“…Elevated platelet P-selectin expression level is a marker of endothelial dysfunction (Nomura et al, 2009) and is positively correlated with systolic BP, pulse pressure, and diagnosis of hypertension (Lee et al, 2008; Reiner et al, 2008; Nomura et al, 2009). Common SELP sequence variants also explain a significant proportion of individual variability in the soluble P-selectin protein levels, even after correcting for environmental factors such as smoking (Lee et al, 2008; Reiner et al, 2008). Furthermore, SELP 1087A/G polymorphism is a predictor of poorer neurocognitive functioning in hypertensive elderly (Gunstad et al, 2009).…”