AIM: A novel approach to generate reference fingerprint, named principal component analysis method(PCA), was proposed in this paper. METHODS: Chromatographic finerprint of Tongbiding Injection and multi-wavelength chromatographic fingerprint of Fructus Gardenia were served as examples. Their corresponding reference fingerprints were yielded via PCA, and by comparison with average method and median method were also performed. RESULTS: Reference fingerprint, yielded by PCA based on least-squares principle, was essentially the linear combination of original chromatographic fingerprints. It had a better capability of maintaining and summarizing the data information of original chromatographic fingerprints and optimized properties, and was very similar to one generated by average method or median method. Abnormal fingerprints, if were possibly present in population of fingerprints, would be conveniently found via PCA method, and treated by using appropriate methods to eliminate the effects on reference fingerprint yielded. CONCLUSION: PCA method can be served as an effective approach to produce the reference fingerprint.

OBJECTIVE: To explore the genetic etiology of a fetus with Cornelia de Lange syndrome type 1. METHODS: Clinical data of the fetus was collected. Genomic DNA was extracted from amniotic fluid and peripheral blood samples of the parents and subjected to low-depth copy number variant sequencing, whole exome sequencing (WES) and Sanger sequencing. Pathogenicity of the candidate variant was predicted based on the guidelines of American College of Medical Genetics and Genomics (ACMG). Minigene assay was used to assess the effect of the variant on mRNA splicing. RESULTS: WES revealed that the fetus has harbored a heterozygous c.5808+5gG>A variant in the intron of the NIPBL gene, which was predicted to affect the mRNA splicing. The same variant was not detected in either parent. The variant was not recorded in ExAC, 1000G and dbSNP databases. Comprehensive analysis showed that the variant was deleterious and may result in skipping of exon 31 during mRNA splicing. CONCLUSION The fetus was diagnosed with Cornelia de Lange syndrome type 1. Splicing variant identified by WES may be verified by minigene assay in vitro, which can provide more evidence for the prediction of its pathogenicity.
Cell Cycle Proteins/genetics* ; De Lange Syndrome/genetics* ; Female ; Fetus ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; RNA, Messenger