Objective: To identify the phenotypes, antibodies and explore the molecular mechanisms of a patient who carries antibodies to RBC high-frequency antigens and his family members. Methods: The antibody identification test was performed for the proband by serological methods, and targeted NGS was subsequently used to detect mutations that occurred in blood group genes. Blood samples were collected from the proband and his family members. Sanger sequencing was used to verify the mutation of the XK gene. The expression of Kell blood group antigens was detected by serological methods and flow cytometry. K cells were used to detect the antibody specificity of the proband. The morphology of red blood cells was detected by the scanning electron microscopy. The serum creatine kinase levels of the proband and his family members were analyzed by colorimetric methods. Results: The results of the antibody identification test suggested that the proband might have antibodies to high-frequency antigens. NGS results suggested a homozygous mutation (c. 107G>A) in exon 1 of the XK gene in the proband, resulting in a truncated XK protein. The Sanger sequencing results of the proband were consistent with the NGS results, and the mutation was not found in other family members. The expression of Kell blood group antigens of the proband was not found by serological methods and flow cytometry. The results of the antibody specificity test showed that the proband had anti-Km antibodies. Spike-like changes were identified on red blood cells, and serum creatine kinase level was elevated in the proband. Conclusion: In this study, the McLeod phenotype caused by homozygous mutation (c. 107G>A) of XK gene was identified in Chinese individuals for the first time by the phenotype and molecular mechanism studies. The results of genotyping and phenotyping suggested that the McLeod phenotype caused by the mutation was compatible with the phenotypes of McLeod and K .

Objective:To observe the effect of moxibustion on learning and memory abilities, corticosterone and glucocorticoid receptor (GR) in subacute aging rats. Methods:Twenty four Sprague-Dawley (SD) rats were randomly divided into a normal group, a model group and a moxibustion group, 8 rats in each group. Rats in the model group and the moxibustion group were subcutaneously injected with 25% D-galactose [125 mg/(kg·bw)] for 40 d continuous; rats in the normal group were injected with saline at the same position for 40 d continuous. Rats in the moxibustion group were given mild moxibustion at bilateral Shenshu (BL 23) at the same time of modeling; rats in the normal group and the model group were only identically grabbed without moxibustion for 40 d. The learning and memory abilities of rats were observed using the Morris water maze at the end of the experiment. Abdominal aorta blood and thymus were collected after water maze experiment. Enzyme-linked immunosorbent assay (ELISA) was used to detect serum corticosterone level, and immunohistochemical method was used to detect the expression of thymus GR. Results:Compared with the normal group, rats in the model group showed that a significantly longer escape latency time (P<0.01) on the third and the fourth days; number of times crossing the platform in 70 s significantly reduced (P<0.01); activity times in the fourth quadrant significantly decreased (P<0.05); serum corticosterone levels increased (P<0.01); thymus GR expression decreased (P<0.05). Compared with the model group, rats in the moxibustion group showed that the escape latency times were significantly shorter on the third, the fourth and the fifth days (P<0.01,P<0.05); number of times crossing the platform in 70 s significantly increased (P<0.05); activity times in the fourth quadrant significantly increased (P<0.05); serum corticosterone levels decreased (P<0.05); thymus GR expression increased (P<0.05). Conclusion:Moxibustion could improve the learning and memory abilities of subacute aging rats, down-regulate serum corticosterone levels, and increase thymus GR content.

OBJECTIVETo screen rare blood groups Fy(a-), s-, k-, Di(b-) and Js(b-) in an ethnic Zhuang population.

METHODSSequence-specific primers were designed based on single nucleotide polymorphism (SNP) sites of blood group antigens Fy(b) and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Di(b), k, Js(b)1910 and Js(b) 2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin.

RESULTSWe successfully made the multiplex PCR system I. We detected the rare blood group antigens using the two PCR system. There are five Fy(a-), three s(-), two Di(b-) in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II, 4490 samples were screened. Five Fy(a-), three s(-) and two Di(b-) samples were discovered.

CONCLUSIONMultiplex PCR is an effective methods, which can be used for high throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.

Blood Group Antigens ; genetics ; Duffy Blood-Group System ; genetics ; Genotype ; Humans ; Multiplex Polymerase Chain Reaction ; methods ; Receptors, Cell Surface ; genetics

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