Performance of interpreting the variants of long QT syndrome according ACMG guidelines by four clinical gene screening agencies from Beijing / 中华心血管病杂志

Objective@#To analyze the interpretation results on the pathogenic classification of KCNH2 variants and SCN5A variants of long QT syndrome (LQTS) based on American College of Medical Genetics and Genomics (ACMG) guidelines by 4 clinical gene screening agencies from Beijing.@*Methods@#Pathogenic classification of 16 variants in KCNH2 and SCN5A was made by 4 clinical gene screening agencies from Beijing based on ACMG guideline. Krippendorff's alpha was used to assess the inter-agency variation consistency.@*Results@#All 4 agencies made pathogenic assessment on all the variants and provided the interpretation results for the classification. For the eight variants from the patients with LQTS, the consistency of classification was only 1/8 and the alpha test value was - 0.01. For the eight variables from incidental findings, the consistency of classification was 4/8 and the alpha test value was 0.407. Evidence analysis of the 4 variants with large differences in classification among agencies showed that the main reasons for the discrepancies originated from the comprehensiveness of the literature search and the inconsistency of the subjective determination of the evidence grade.@*Conclusion@#The consistency of the pathogenic classification of LQTS gene variants based on ACMG guidelines among clinical gene screening agencies from Beijing is poor, which will result in great impact on the clinical treatment strategies of the patients with LQTS. The standardization of pathogenic evaluation of variants in clinical gene screening agencies needs to be improved urgently.

Clinical significances of immuno-pathogenic classification of recurrent spontaneous abortion / 中国免疫学杂志

Objective:To evaluate clinical significances of the immuno pathogenic type of recurrent spontaneous abortion (RSA) Methods:Immunological analysis was made in ABO group antibodies by indirect hemagglutination, anti zona pellucida antibodies by BA ELISA, anti phospholipid antibodies by ELISA, blocking effect (MLR BE) by blocking test of one way mixed lymphocyte reaction, cytotoxic index (CI) by complement dependent micro cytotoxic test, and anti idiotypic antibodies to blocking antibodies (BE Ab2) by MLR BE inhibiting test Results:204 cases of RSA were classified into 4 types on the basis of Immunological analysis ,including typeⅠ (lack of materno fetal immuno recognition), typeⅡ(materno fetal inappropriate immuno recognition), typeⅢ(disorder of materno fetal immuno recognition), type Ⅳ (unexplained) TypeⅠand type Ⅲshowed mainly lack of blocking antibodies, and accounted for 85 8% in population of RSA Comparing to typeⅠand typeⅣ, typeⅡand typeⅢ appeared to abnormal increase in auto antibodies and iso antibodies to incompatible blood group Conclusion:Immuno pathogenic classification of RSA may be of an important significance to choosing the clinical immuno therapeutics and improving treating effect