A A311 blood group gene subtype caused by a-1-3-N-acetylgalactosaminyltransferase gene exon 7 mutations / 中国实验血液学杂志

This study was purposed to analyses the serological and molecular basis of one sample of A blood group which has anti-A. The tube method was used to detect the blood group phenotype, the genotype was amplified by PCR-SSP. The sequence of a-1-3-N-acetylgalactosaminyltransferase gene of blood group was determined by Sanger method. The results showed that serological results of blood group were discrepant. It was determined as A subtype firstly. The result of PCR-SSP showed the existence of O and A blood group gene. The sequencing result of the 6th exon of ABO gene showed the existence of c.261delG, which refers to the O gene. The specific amplification sequencing analysis was carried out on the 7th exon of the O and A blood group gene. Two mutations in the 7th exon of the A gene haplotype, c.467 C > T and c.626 G > A, four mutations in the 7th exon of the O gene haplotype, c.646T > A, 681G > A, 771C > T, 829G > A had been detected. It is concluded that a novel allelic mutation c.626 G > A in the 7th exon of A gene is explored. The Genbank access number of this novel mutation is KC690281. c.467 C > T is SNP. The combination of two allele mutation of A gene is named as a new allelic subtype A311.

Study on KIR gene polymorphisms in 416 renal transplantation recipients from southern Zhejiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate polymorphisms of killer cell immunoglobulin-like receptor gene (KIR) in renal transplant recipients from southern Zhejiang.</p><p><b>METHODS</b>KIR genotypes were analyzed by PCR-SSP in 416 renal transplant recipients, and the genotype frequencies were compared with populations from Eastern China and worldwide.</p><p><b>RESULTS</b>All 16 known KIR genes were detected in the renal transplant recipients, and KIR2DL4, 3DL2-3, 3PD1 were found in all. As a pseudogene, 2DP1 has a high genotype frequency (99%). The frequencies of KIR2DL1, 2DL3, 3DL1, 2DS4 have ranged from 92.1% to 98.8%. Compared with 11 groups in Eastern China and other countries, the KIR2DL2 phenotype frequency was higher (34.6%) than those of Shanghai, Zhejiang and Jiangsu populations (P<0.05). Among 41 genotypes, three have not been reported previously. The most common genotype was AA1, with a frequency of 43.51%, which was significantly lower than those of Jiangsu and Northern Zhejiang.</p><p><b>CONCLUSION</b>Renal transplant recipients from southern Zhejiang share similar features with Eastern China Han population with regard to KIR polymorphisms, but also have unique frequencies for KIR genotypes.</p>

Research advances of genomic GYP coding MNS blood group antigens / 中国实验血液学杂志

The MNS blood group system includes more than 40 antigens, and the M, N, S and s antigens are the most significant ones in the system. The antigenic determinants of M and N antigens lie on the top of GPA on the surface of red blood cells, while the antigenic determinants of S and s antigens lie on the top of GPB on the surface of red blood cells. The GYPA gene coding GPA and the GYPB gene coding GPB locate at the longarm of chromosome 4 and display 95% homologus sequence, meanwhile both genes locate closely to GYPE gene that did not express product. These three genes formed "GYPA-GYPB-GYPE" structure called GYP genome. This review focuses on the molecular basis of genomic GYP and the variety of GYP genome in the expression of diversity MNS blood group antigens. The molecular basis of Miltenberger hybrid glycophorin polymorphism is specifically expounded.

Mutational analysis for FUT1 gene in two cases with para-Bombay blood type / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.</p><p><b>METHODS</b>ABO blood type was determined with serological assays. The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in α-1,2-fucosyltransferase gene (FUT1). The results were verified with direct sequencing.</p><p><b>RESULTS</b>Two rare para-Bombay blood types, namely Bmh and Amh, were identified by serological method, with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1), and another being A205O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3).</p><p><b>CONCLUSION</b>FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. As Bmh and Amh contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.</p>

Clinical study on acupuncture for leukopenia induced by chemotherapy / 中国针灸

<p><b>OBJECTIVE</b>To explore the adjunctive therapeutic effects of acupuncture for leukopenia induced by chemotherapy. METHODS Eighty six cases with leukopenia after chemotherapy treatment were randomly divided into a granulocyte colony-stimulating factor (G-CSF) plus acupuncture (A) group and a G-CSF group, 43 cases in each group. After chemotherapy treatments, the patients of both groups were treated with G-CSF for 4 times, with acupuncture at Zhigou (TE 6), Quchi (LI 11), Hegu (LI 4), etc. added in the G-CSF plus A group, for an observaion cycle of 45 days. Their therapeutic effects on the 10th and 31st day and peripheral white blood cell (WBC) counts and neutrophilic granulocyte classification on the 10th, 17th, 24th, 45th day after treatment were compared.</p><p><b>RESULTS</b>After they were treated on the 10th day, the effective rates were both 100.0% (both 43/43), and on the 31st day, the effective rate of 98.9% (42/43) in the G-CSF plus A group was higher than 91.1% (35/43) in the G-CSF group (P < 0.05). The WBC counts in the G-CSF plus acupuncture group were both higher than those in the G-CSF group on the 10th, 17th and 24th day after treatment (all P < 0.05). The ratios of mature neutrophilic granulocyte in the G-CSF plus A group were all higher than those in the G-CSF group at the same time (all P < 0.01).</p><p><b>CONCLUSION</b>Acupuncture can increase the therapeutic effect of G-CSF, delay the decrease of WBC after discontinuing G-CSF, promote the neutrophilic granulocyte differentiating forward to mature and it is better for improving leukopenia induced by chemotherapy.</p>