A novel frameshift mutation in RHAG leads to Rhnull phenotype in a Chinese individual.

BACKGROUND: We recently encountered a Rhnull phenotype proband within one family in the Chinese population. Rhnull is a rare autosomal recessive disorder characterized by the absence of the Rh antigens on the erythrocyte membrane, resulting in chronic hemolytic anemia. This study described the serological and molecular analysis of a Chinese Rhnull proband and his immediate family. METHODS: Red blood cells antigen phenotyping and antibody screening/identification were conducted. RHD, RHCE, and RHAG were analyzed using genomic DNA by polymerase chain reaction and sequence analysis. RESULTS: Serologic tests showed a D-C-E-c-e- phenotype in the proband associated with the suspicion of anti-Rh29 (titer 16). Molecular analyses showed a new mutation (c.406dupA) in exon 3 of RHAG. This duplication introduced a reading frameshift (p.Thr136AsnfsTer21). The RHAG mutation was found in the homozygous state for the proband and heterozygous state for his parents. CONCLUSION: We identified a novel RHAG mutation resulting in the Rhnull phenotype of the regulator type. Inheritance of the novel allele was shown by family study.

[Regulative effect of bakuchiol on ESF-1 cells anti-aging gene].

OBJECTIVE: To explore the mechanism of bakuchiol on anti-aging gene mRNA expression level of human skin fibroblasts (ESF-1). METHODS: The potential of cell proliferation which was divided into blank group,positive control estradiol group, and bakuchiol high, medium and low dose groups was detected by MTT. The expression levels of Col I, Col III, TIMP-1, TIMP-2 and MMP-1 mRNA were detected with RT-PCR. RESULTS: ESF-1 vitality and the expression levels of Col I, Col III, TIMP-1 and TIMP-2 mRNA were significantly increased by bakuchiol and E2. However, the expression of MMP-1 mRNA was reduced by bakuchiol and E2. CONCLUSION: The bakuchiol can enhance ESF-1 cell activity, promote collagen and matrix metalloproteinase inhibitors mRNA expression level and inhibit mRNA expression of matrix metalloproteinases in order to postpone skin aging.