ABSTRACT
Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL. Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing. Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1. Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.
Subject(s)
Anal Canal , Chromosomes, Human, X , Pedigree , Adult , Female , Humans , Male , Anal Canal/abnormalities , China , Chromosome Deletion , Chromosomes, Human, X/genetics , East Asian People/genetics , Esophagus/abnormalities , Heart Defects, Congenital , Kidney/abnormalities , Limb Deformities, Congenital/genetics , Spine/abnormalities , Trachea/abnormalitiesABSTRACT
This study aimed to explore an effective, simple, and time-saving method for astaxanthin accumulation. Wild-type Saccharomyces cerevisiae as a bioreactor, the SpcrtR gene was first ligated with the signal peptide S to construct pYES2/NT-A-S-SpcrtR plasmid in Saccharomyces cerevisiae. The detection of SDS-PAGE and Western blotting protein proved that SpCRTR was successfully extracellular expressed in Saccharomyces cerevisiae. The target product astaxanthin was produced by co-fermentation of Spirulina platensis and recombinant Saccharomyces cerevisiae. The test results showed that after 18 h of fermentation, the astaxanthin concentration was highest in the mixed fermentation broth with 4% Spirulina platensis and recombinant Saccharomyces cerevisiae, and the content of astaxanthin was 0.25 ± 0.02 µg/mL. In addition, the source of astaxanthin was explored. During the fermentation process of the Saccharomyces cerevisiae strain, SpCRTR enzyme catalyzed the Spirulina platensis canthaxanthin, which almost completely converted into astaxanthin, providing a simple method for astaxanthin synthesis. Compared with culture of Haematococcus pluvialis, this culture route not only shortens culture time, but also eliminates the limitation of the conditions in the culture process.
