A genetic analysis of 23 Chinese patients with hemophilia B

Abstract

Hemophilia B (HB) is an X-linked recessive bleeding disorder caused by mutations in the coagulation factor IX (FIX) gene. Genotyping patients with HB is essential for genetic counseling and provides useful information for patient management. In this study, the F9 gene from 23 patients with HB was analyzed by direct sequencing. Nineteen point mutations were identified, including a novel missense variant (c.520G > C, p.Val174Leu) in a patient with severe HB and a previously unreported homozygous missense mutation (c.571C > T, p.Arg191Cys) in a female patient with mild HB. Two large F9 gene deletions with defined breakpoints (g.10413_11363del, g.12163_23369del) were identified in two patients with severe HB using a primer walking strategy followed by sequencing. The flanking regions of the two breakpoints revealed recombination-associated elements (repetitive elements, non-B conformation forming motifs) with a 5-bp microhomology in the breakpoint junction of g.12163_23369del. These findings imply that non-homologous end joining and microhomology-mediated break-induced replication are the putative mechanisms for the deletions of the F9 gene. Because the g.12163_23369del deletion caused exons to be absent without a frameshift mutation occurring, a smaller FIX protein was observed in western blot analyses.

Dynamic simulation of bistable electrofluidic device based on a combined design of electrode and wettability patterning

“…A homogeneous electrode covers the entire area of the pixel. According to the observations in experiments previously conducted in our group, the phenomenon of oil film rupture into different oil patterns was observed to depend on driving voltage and voltage ramping . If the pixels are unequally filled, more uncertainty in the oil film rupture position is expected.…”

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

“…The molecular pro le of patients with HB varies widely among different studies [24][25][26][27][28][29][30][31]. According to a population-based study from Sweden, Val107silent, Arg145His, and Ala233Thr mutations are commonly found in mild HB cases, followed by Arg-4Trp in moderate cases and Arg248stop, Arg29stop, and Arg252stop in severe cases [24].…”

The promotion and suppression of DNA charge neutralization by the cosolute ectoine

“…36 Our previous study shows that zwitterions in solution hinders the charge neutralization of DNA by cations in solution. 26 Thus, we believe that the interplay among many effects of ectoine on DNA leads to certain new and interesting behaviours of DNA charge neutralization and compaction. This paper is organized as follows: in Section 2, we present the results and discussions on EM of DNA in solution of counterions by DLS, DNA morphologies by AFM, and tethering forces by MT.…”

“…[23][24][25] In our previous work, we found that many factors including the types of counterions, pH in solution and hydrophobicity of agents have signicant inuence on DNA compaction and its charge compensation. [26][27][28][29][30][31] In some cases, over compensation or charge inversion occurs when the charge of counterions surrounding the DNA skeleton is more than the polyelectrolyte itself. [32][33][34][35] Up to now, the interaction mechanism between cosolutes and DNA, the role of cosolutes in DNA compaction and charge neutralization, have been less explored, and thus, are the main topics of the current work.…”