Objective To study the point mutation of FUT2 gene in Chinese Han population.Methods Using direct sequencing,molecular cloning techniques and the comparing with the gene sequence reportedby Kelly, the FUT2 gene structures of 41Chinese Han individuals have were studied.Results The G428A mutations of FUT2 gene was not found,but the A385T and C357T mutations were found in the 41 Chinese Han individuals.Among the 41 individuals,24 had A385T mutation and 17 had no A385T mutation.The neutral mutation C357T was found in all 41individuals.Conclusion The G428A point mutation of FUT2 which is commonly found in non secretor of Africans and Caucasian was not found in Chinese population.There are A385T and C357T point mutations which were found in 41 Chinese Han individuals.The present stady shows the difference between Chinese and Caucasian,and other non secretor mutations will be revealed by further investigation

Objective To study the Secretor gene (FUT2) molecular structure of Uighur population in Xinjiang area,China. Methods DNA was extracted from 40 Uygur unrelated donors' blood and sequence analysis of FUT2 genes was performed. Results Four mutations in the FUT2 genes of Uighur donors have been identified. The frequencies of mutations were 71.25% for 357T, 28.75% for 357C,77.50% for 385A,22.50% for 385T,70% for 428G,30% for 428A,72.50% for 739G and 27.50% for 739A. Conclusion Based on the characteristics of FUT2 gene structure of Xinjiang Uighur,it cauld be thought that there are some relationships between Xinjiang Uighur, Taiwanese of China and Caucasiany.

A)at nt.41 of the only one repeat in 15 individuals with the A205 allele were detected.No special molecular background was found in the two samples which were phenotyped as A2,but genotyped as A102/B101.Conclusion CBF/NF-Y enhancer region of the A2 alleles occurs with minisatellite fragments length polymorphisms.Allele-specific variations in CBF/NF-Y enhancer region of A2 blood group gene were elucidated in Chinese population.

Objective To study the relationship between diabetic retinopathy(DR) and Landsteiner-Wiener,Indian blood group genes.Methods Peripheral blood samples were collected from 50 DR patients,and 160 unrelated volunteer blood donors(the control).CDNA,including LW gene generated by reverse transcription polymerase chain reaction(RT-PCR),was subjected to sequence analysis,and the genomic DNAs,extracted from each sample,were sequenced directly for LW gene and IN gene.Woolf method was used for calculating relative risk(RR).Results In the 160 control samples,there was A at the nt380 locus in Exon1 of the LW gene,which were genotyped as LWa;and there was G at the nt252 locus in Exon2 of the IN gene,which were genotyped as INb.All the 53 samples from DR patients were LWa homozygous genotypes and all INb homozygous genotypes.Conclusion These two candidate genes are not associated with the incidence of DR.

BACKGROUND: ABO is the most important blood group system for blood transfusion. Though widely used in determining ABO blood group for its simplicity and rapidity, serological technology has its inherent limitation, for which ABO genotyping provides a valuable alternative.OBJECTIVE: To study ABO gene polymorphism in Chinese Han population and apply ABO genotyping technique to solve serological problems in clinical practice of blood transfusion.DESIGN: Comparison of ABO genotyping results of random selected samples with those of routine serological phenotyping.SETTING: An institute of transfusion medicine in a municipal blood center.PARTICIPANTS: Totally 260 unrelated healthy Chinese blood donors of Han nationality were randomly selected in Shenzhen Blood Center from March to December in 2002, including 110 male and 150 female subjects aged between 18 and 50 years. A sample with discrepancy in serological ABO phenotype was from our blood center, and the donor' s family was investigated. Six samples suspected to be A2 phenotype by serological test were from four hospitals in Shenzhen including the Second People' s Hospital of Shenzhen.METHODS: The DNA was extracted from the peripheral blood by rapid salt fractionation, and subjected to polymerase chain reaction(PCR) with sequence-specific primers (PCR-SSP) to amplify the ABO gene for ABO genotyping. The alleles of the blood type difficult to determine were amplified with PCR-SSP on the basis of serologic tests including absorption and elution test and agglutination inhibition assay of salivary blood-group substances.MAIN OUTCOME MEASURES: Genotypes and phenotypes of the blood samples from 260 individuals and of the samples with serological ABO discrepancy.RESULTS: In the 260 Chinese Han individuals, in accordance with Hardy-Weinberg equilibrium, the gene frequencies of O1, B, A1O1(A467c), A1O2/1O3(A467T) alleles were 0. 582 7, 0. 184 6, 0. 009 6, and 0. 2231, respectively. Two of the six individuals with difficulty of blood type determination and suspected to have A2 phenotype by serological tests proved to have A2O1O1 genotype, and the rest were all of A1O2/A1O3O1. Three children of a family with difficult identification were para-Bombay types, and their ABO types were A102B, A102B and A102O1, respectively.CONCLUSION: ABO PCR-SSP genotyping is simple, rapid and accurate and can be a valuable complement to serological identification.

BACKGROUND:During the research of ABO blood type antigen, the overwhelming majority samples of same ABO gene express a normal and same ABH antigen. But a certain amount samples with the same ABO genetic background show different antigen intensity expression as for different family or individuals. The ABO blood type has complex expression regulation mechanism. Analysis of ABO blood group serology and genetic background of these rare bi-specific AB phenotype specimens, and further studying on epigenetics may partly revealed ABO gene expression mechanism. OBJECTIVE:To study methylation of CpG island and explore the relationship between ABO gene promoter coding glycosyltransferase with dual donor specificity and ABH antigen expression. METHODS:Six samples detected as CisAB or B(A) phenotype were studied in this paper. The whole code sequences and promoter sequence of ABO gene were amplified respectively. The level of CpG methylation in promoter of ABO gene was further detected with bisulfite treatment method. RESULTS AND CONCLUSION:Among the six bi-specific AB phenotype samples, two previously-identified CisAB05/B(A)06 al eles with nt803C>G on the basis of B101 al ele sequence could be seen, and three additional methylated sites nt-33(30%), nt+27(50%) and nt+49(50%) were found between the two regions of CpG island in promoter of ABO gene. Two CisAB01 al eles with nt803C>G mutation on the basis of A101 sequence were found at nt-26C(10%). Other two B(A)04 al eles contained nt640A>G mutation on the basis of B101 sequence were found in the whole code sequences regions, and six additional methylated sites nt-33(10%), nt+16(50%), nt+57(60%), nt+59(60%), nt+68(60%) and nt+74(60%) were found between the two samples. No abnormity was identified in the promoter region of ABO gene. Our results indicated that the differential methylation levels in the CpG island of ABO gene promoter region may affect ABH antigens expression on the red cel membrane even if the samples had the same ABO genetic background.

Objective To explore three under nasal endoscope surgery treatment the clinical curative effect of maxillary sinus cyst.Methods 95 cases of maxillary sinus cyst patients were chosen,the maxillary sinus were used respectively to open to expand,the nasal passages of maxillary sinus fenestration and maxillary sinus anterior wall fen-estration three types of surgical treatment,postoperative follow -up of 1 year,the clinical curative effect of three kinds of operation method were analyzed.Results The maxillary sinus mouth open expansion of 39 cases during operation,37 cases were cured,2 cases of recurrence;The nasal passages under the maxillary sinus fenestration 27 cases, 26 cases cured,1 case of recurrence;The maxillary sinus anterior wall fenestration 29 cases,29 cases healed;Three kinds of operation cure rate difference had no statistical significance(P >0.05).Conclusion The treatment of max-illary sinus cyst operation should be selected according to the location and size of cysts and whether the various associ-ated withnasal sinuses diseases and other factors determine the.Maxillary sinus cyst neararound the maxillary sinus, sinus cavity lateral wall or with sinus disease can use theostium of maxillary sinus extending open surgery path;near the sinus cavity innerwall and the bottom wall can use windowing of the inferior nasal meatus approach;near the front wall of sinus cavity and large cysts or recurrence can be choice ofmaxillary sinus by fenestration operation path;the purpose is to remove the cystoccurs completely,reduce tissue injury and complications.

T missense mutation in exon 7. No novel point mutation at exons 6 and 7 of ABO gene was detected in the other four samples with B subgroup. Conclusion We define this allele as a novel B allele in Chinese Han individuals. The mutation of this novel allele in which the nucleotide changes from C to T at position 721 in exon 7, resulting in an amino acid change from Arg to Trp, results in the decrease of the enzyme activity. It indicates that the alteration of amino acid at position of 241 is critical to the activity of glycosyltransferases.

Objective To study the molecular genetic background of Bel subtype at ABO blood group.Methods Three samples and fifteen samples were diagnosed as Bel subgroup and normal control samples by serological test,respectively.The extracted DNA was genotyped by sequence specific primer- polymerase chain reaction foilowed by sequencing for Exon6 and exon7 at ABO locus and clones were sequenced.Results A novel Bel variant allele(GenBank EF117687) was identified in a Bel individual.The Bel allele was different from the regular B101 allele by single 952G>A missense mutation in exon7.resulting in an amino acid subsfitution of Val for Met at 318 locus.No mutations were detected in the fifteen control samples and the other two Bel allele samples.Conclusions The mutation position was fimt found to lie on coding region of ABO gene behind nucleotide 930.The mutation of G952A in the al,3 galactosyhransferase gene may be one of the molecular genetic basis of Bel ohenotype.

Objective To investigate serological blood typing of the ABO locus which contradict to general law of inheritance in parentage,and the underlying reasons for severe hemolytic disease of newborn(HDN).Methods To research the family whose newborn is AB phenotypes,mother is O phenotypes and father is AB phenotypes.The familiy were genotyped by parentage tests, serological tests,PCR-SSP and direct DNA sequencing at exons 6 and 7 of ABO gene.At the salne time,HDN was detected by micro column gel Coombs (MGCT), and the primary fingerposts of the routine blood tests. Biochemical tests were dynamically observed.Results The results of parentage tests showed that three-generation pedigree have parent-child relationship. The red blood cell(RBC)of this AB phenotypes of this family members strongly agglutinated(4+)with diverse monoelonal anti-A and anti-B antibodies,and their serum did not contain anti-A and anti-B antibodies in blood anti-typing.PCR-SSP can not detect their A and B gene,but DNA sequencing at exons6 and 7 of ABO gene revealed that it had the B(A)803C→G mutation.Conclusions The genetm basis of this parentage are B(A)803G blood gene which harbored both A and B difunctionality of glyeosyhransferases.This was the first report that severe HDN resulting from a large number of A and B antigens in RBC of B(A)phenotype of a newborn,which has clinical significance on ABO locus.