Fank1 is exclusively expressed in the testis from the meiosis phase to the haploid phase of spermatogenesis. In this study, we examined the function of Fank1 by establishing a Fank1-knockdown transgenic mouse model. The apoptotic statuses of the testes of the transgenic mice were tested using the terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) method. The FANK1 consensus DNA-binding sequence was identified using cyclic amplification of sequence target (CAST) analysis. Differentially expressed genes were examined using microarray analysis. A reduction in sperm number and an increase in apoptotic spermatocytes were observed in Fank1-knockdown mice, and the apoptotic cells were found to be primarily spermatogonia and spermatocytes. The CAST results demonstrated that the consensus DNA-binding sequence was AAAAAG, in which the percentage occurrence of each base at each position ranged from 55 to 86%. This sequence was present in the promoter regions of 10 differentially expressed genes that were examined using microarray analysis. In total, 17 genes were differentially expressed with changes in their expression levels greater than twofold. The abnormal expression of Fank1 target genes that were regulated directly or indirectly by Fank1 reduced the number of sperm in the knockdown mice. Thus, FANK1 may play a pivotal role in spermatogenesis as a transcription factor.

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The antigen gene of ABO blood group system, called ABO, is located on human chromosome 9, with a total length of 19.5 kb. It is the first blood group system found by human beings.[1] ABO blood group subtypes are formed by ABO genovariation, i.e., gene A variation for A subtype, gene B variation for B subtype and gene O variation for new O alleles. ABO subtypes contain A3, Ax, Ael, Aw, Am, B3, Bx, Bel, Bw, cis-AB, B (A). Generally, an individual with AB blood group has an A allele on one chromosome, with B allele on its paired chromosome. This phenomenon is called trans-AB. However, cis-AB is a unique ABO phenotype that A and B alleles are located on the same chromosome, so that it can be inherited by the next generation.[2] This special mode of inheritance often causes a discrepancy of ABO blood grouping and then reduces the effectiveness and safety of blood transfusion.Therefore, to accurately identify the blood group of cis-AB is a precondition for  the safety of blood transfusion.[3] The serological and genotyping analysis on a case of cis-AB patient in our hospital is reported as follows.