Studies of the expression and correlation of TLR4 and CD80 in recurrent spontaneous abortion / 中国医师杂志

Objective To investigate the expression of Toll-like receptor 4 (TLR4) and CD80 in unexplained recurrent spontaneous abortion and their relationship,discuss its possible roles in guiding eugenics,and provide a new idea for clinical diagnosis and prevention.Methods The study group were 60 cases with unexplained recurrent spontaneous abortion patients.The control group included 30 cases of normal early pregnancy without previous history of adverse pregnancy.The expressions of TLR4 and CD80 were detected with immunohistochemistry in the peripheral blood,chorion,and decidua from each case.Results TLR4 had higher expression in the peripheral blood,the chorion and decidua from the recurrent spontaneous abortion women than that from normal pregnancy women (P ＜ 0.05).Levels of CD80 were significantly higher in recurrent spontaneous abortion group than in normal pregnancy group (P ＜ 0.05).There was a positive correlation between TLR4 and CD80 (r =0.982,0.986,and 0.776,P ＜0.01).Conclusions The study shows that TLR4 and CD80 were expressed in peripheral blood lymphocytes and villi and decidua of early pregnancy (normal pregnancy or abnormal pregnancy).Higher expressions of TLR4 and CD80 might play an important role in the occurrence of recurrent spontaneous abortion.

Suspected pathogenic mutation identified in two cases with oculocutaneous albinism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism.</p><p><b>METHODS</b>All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing.</p><p><b>RESULTS</b>For the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation.</p><p><b>CONCLUSION</b>The coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.</p>