Application of copy number variation sequencing for prenatal diagnosis in women at an advanced maternal age / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age.@*METHODS@#A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.@*RESULTS@#For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb).@*CONCLUSION@#Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.

Molecular simulation research on aggregation of insulin / 生物医学工程学杂志

In the present research, molecular simulation and quantum chemistry calculations were combined to investigate the thermal stability of three kinds of insulin aggregations and the effect of Zn (II) ion coordination on these aggregations. The results of molecular simulation indicated that the three insulin dimers in the same sphere closed hexamer had synergistic stability. It is the synergistic stability that enhances the structural and thermal stability of insulin, preserves its bioactivity during production, storage, and delivery of insulin formulations, and prolongs its halflife in human bodies. According to the results of quantum chemistry calculations, each Zn (II)-N (Im-insulin) bond energy can reach 73.610 kJ/mol for insulin hexamer and 79.907 kJ/mol for insulin tetramer. However, the results of Gibbs free energy changes still indicats that the coordination of zinc (II) ions is unfavorable for the formation of insulin hexamer, because the standard Gibbs free energy change of the coordinate reaction of zinc (II) ions associated with the formatting insulin hexamer is positive and increased.