Epidemiological and Gene Mutation Type and Frequency Analysis of Thalassaemia in Shenzhen / 现代检验医学杂志

Objective To analyzed distribution characteristics of gene mutation and gene carrying rate of thalassaemia in Shenzhen.Methods 2 500 cases with adult,neonatal umbilical cord blood of 2 500 cases for alpha thalassaemia,beta thalas-saemia,gene types and carry frequency were analyzed.Results 8 types of alpha thalassemia gene 128 cases,rate of detection was 5.12% (128/2 500),and the main genetic types were-SEA/αα(54 cases,42.19%),-SEA/-α3.7 (32 cases,25%)respec-tively.2 500 cases of adult samples were checked out 7 types of gene mutation 101 cases,and detection rate was 4.04%(101/2 500).Main gene mutation type were CD41-42 (39 cases,38.61%),IVS-2-654 (20,21 cases,79%),CD17 (18 cases, 17.82%)and-28 (13 cases,12.87%)respectively.Conclusion Shenzhen thalassaemia mutation type and frequency had ob-vious regional characteristics and times characteristics,health authorities should strengthen epidemiology study,formulate corresponding prevention and intervention measures.

Métodos de estimação do coeficiente de endogamia em uma população diplóide com alelos múltiplos / Methods of estimation of the inbreeding coefficient in a diploid population with multiple alleles

Com o presente trabalho, objetivou-se avaliar as propriedades de três estimadores do coeficiente de endogamia, F, em uma população diplóide com alelos múltiplos, por meio de dados de frequências alélicas de amostras de indíviduos, obtidas em populações simuladas, por meio do SAS. Foram avaliados o estimador de F, obtido pela média das estimativas nas análises de cada alelo, o estimador considerando a análise conjunta envolvendo todos os alelos, bem como aquele por meio de análise multivariada com os três alelos proposto por Long (1986). Os resultados encontrados para a média e variância dos estimadores, a partir de 1000 estimativas de F, calculadas para cada tamanho de amostra, mostraram que os três estimadores são tendenciosos. Entretanto, de maneira geral, observou-se que o estimador considerando a análise de variância conjunta foi menos tendencioso e apresentou menor variância, quando o coeficiente de endogamia na população era alto, enquanto que para populações com endogamia baixa a variância do estimador considerando a análise multivariada foi menor.

The present work evaluted the properties of three estimators of the inbreeding coefficient, F, in a diploid population with multiple alleles, using data of gene frequencies in individuals from random samples, obtained in simulate populations, through the SAS. Were evaluted the estimator of F, obtained by single and joint univariate analysis and the estimator of F obtained by multivariate analysis as proposed by Long (1986). The analysis of the means and variances of the estimators, obtained of 1000 estimates of F, calculated for each sample size, it demonstrated that the three estimators is bias. However, it was observed that the estimator obtained of univariate analysis it was less biased and it presented smaller variance, when the inbreeding coefficient in the population was elevated, while for populations with low inbreeding, the variance of, the estimator obtained by the multivariate analysis it was smaller.

Study of the genetic and polymorphism of human platelet antigens 1—6,15 in unrelated volunteer blood donors,Guangzhou / 中国输血杂志

Objective To study the polymorphism of human platelet antigens among unrelated Guangzhou blood donors with PCR-SSP,in order to provide basic data for population studies and clinical transfusion practice.Methods Blood samples from 706 unrelated blood donors in Guangzhou were genotyped for each of the HPA1—6,15 systems by PCR-SSP.Gene frequencies and genotype frequencies were analyzed by statistical methods.Results HPA-3 and-15 had the greatest heterozygosity with a gene frequency of 0.2918,0.4830,0.2252 for HPA-3a/a,HPA-3a/b,HPA-3b/b,and 0.2691,0.5170,0.2139 for HPA-15a/a,HPA-15a/b,HPA-15b/b.The a/a homozygosity was predominant in HPA-1,-2,-4,-5,with a frequency ranged from 0.9583 to 0.9993,while HPA b/b was not found among them.The frequency of HPA-lb and HPA-4b was very low,which was 0.0028 and 0.0007,respectively.In our study,HPA-1 frequency was significantly different from that of the north Chinese,English,and American Indian(P

Apolipoprotein E Polymorphism In Two Populations Of Andhra Pradesh.

Apolipoprotein (apo) E genotypes were determined on 182 subjects of Kshatriya and 38 subjects of the Mala populations of Andhra Pradesh. Five genotypes (2/3, 2/4, 3/3, 3/4, 4/4) in the Kshatriya and three genotypes (2/3, 3/3, 3/4) in the Mala, representing three common alleles (e2, e3 and e4 allele frequencies were 0.052, 0.852 and 0.096 for the Kshatriyas and 0.040, 0.921 and 0.040 for the Malas, respectively). No significant difference was observed between these two populations for apolipoprotein (apo) E polymorphism. The genotypic distribution of apoE was at Hardy-Weinberg equilibrium in these two populations. Wide ranges of differences were observed in allele frequencies between populations of the world.

Establishment of eight human platelet antigen systems and HLA-Ⅰ antigen donor bank in Guangzhou area / 中国输血杂志

Objective To establish eight human platelet antigen systems and HLA-Ⅰ antigen donor bank,and to determine the gene frequencies of human platelet antigen(HPA) and HLA-Ⅰin Guangzhou area.Methods A total of 805 blood samples from Chinese Han voluntary platelet donors were included in this study.PCR-SSP was used to detect single-nucleotide polymorphism in HPA systems.Luminex-SSO was used to detect the HLA-Ⅰantigens.Results The distribution of HPA 1,2,3,4,5,6,9,15 was in Hardy-Weiberg equilibrium among study subjects.Allele frequencies of 0.998 and 0.002 were observed for HPA 1a and 1b,0.952 and 0.048 for HPA 2a and 2b,0.553 and 0.447 for HPA 3a and 3b,0.999 and 0.001 for HPA 4a and 4b,0.976 and 0.024 for HPA 5a and 5b,0.982 and 0.018 for HPA 6a and 6b,1 and 0 for HPA 9a and 9b,0.518 and 0.481 for HPA 15a and 15b.The high frequency HLA-Ⅰ alleles were A*02,0.286;A*24,0.162;A*11,0.323;B*46,0.147;B*75,0.100;C*01,0.177;C*03,0.289;C*07,0.179.Conclusions This study confirmed the ethnic and territorial difference of HPA and HLA-Ⅰ.The establishment of HPA and HLA-Ⅰ matched plateletpheresis donor registry is helpful in the improvement in platelet transfusion.

INVESTIGATION ON THE C_3 PHENOTYPE FREQUENCIES IN THE HAN POPULATION IN CHENGDU AREA AND C_3 PHENOTYPING IN HUMAN BLOOD STAINS USING CELLULOSE ACETATE ELECTROPHORESIS FOLLOWED BY IMMUNOFIXATION / 中国法医学杂志

The distribution of C_3 phenotype frequencies in the Han population in Cheng-du area was studied by means of cellulose acetate electrophoresis followed byimmunofixation.In 400 unrelated healthy individuals three C_3 phenotypes weredemonstrated.Their frequencies were as follows:SS=397,FS=2 and SSvar=1.Their gene frequencies were as follows:C_3~S=0.9963,C_3~F=0.0025 and C_3~(svar)=0.0013.The C_3 phenotype frequencies were in good agreement with those expec-ted.C_3 phenotyping in the huma bloodstains kept at 37℃ and room temp-lasserature for two days,at 4℃ for 23 days(cotton bloodstains)and for 35 days(g-bloodstains),and -20℃ for at least 87 days could be performed.C_3 ph-enotypingin human serum could be performed at roon temperature for 3 days,as 4℃ for 13days and at -20℃ for at least 106 days.C_3 phenotyping was usedin five casesof paternity dispute.

STUDY ON THE EAP DISTRIBUTION AND PHENOTYPING OF EAP IN HUMAN BLOODSTAINS USING IEF / 中国法医学杂志

The 340 blood samples from Guangdone area were detected by ultra thin poly-acrylamide gel isoelectric focusing for EAP phenotypes.The phenotypes were20 EAP A,119 EAP BA,201 EAP B.The gene frequencies of EAP were as foll- ows p~(?)0. 2338,p~(?)0. 7662. The 110 bloodstain samples of the cloth kept at roomtemperature for 7 weeks could be phenotyped correctly,The 21 bloodstain samp-les on the porcelain plate kept at room temperature for 9 weeks could be phen-otyped correctly.When the blood volume of bloodstain was equal to or over5?l EAP could be phenotyped.6 out of 20 mouldy bloodstains,the EAP BAphenotype were changed to EAP B.In blind trial,20 bloodstain samples kept atroom temperature for 7 weeds could be phenotped correctly.