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Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1999 Aug;16(4):228-32
OBJECTIVE: To understand the allele structure and genetic polymorphism at five STR loci in Chinese Han population, and construct a preliminary database. METHODS: EDTA-blood specimens were collected from the unrelated individuals. The DNA samples were extracted with Chelex method and were amplified by PCR technique. The PCR products were analyzed using both the PAGE horizontal electrophoresis with discontinuous buffer system and the automated fluorescence detection approach. RESULTS: Four STRs consist of simple repeat motifs, while one STR contains a complex repeat structure. The STR polymorphisms at all of the five loci have been observed in Chinese Han population. CONCLUSION: The obtained data are beneficial to understanding the population genetics of the five STR loci in Chinese Han population. As a simple approach, the PAGE horizontal electrophoresis can be employed for typing the five STR markers.
PMID: 10431048, UI: 99362857
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Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1999 Jun;16(3):167-70
OBJECTIVE: The aim of this study on the genetic polymorphism at FES locus was to know whether there is genetic relationship between Chinese and German populations. METHODS: EDTA-blood specimens were collected from 311 healthy unrelated Han individuals in Jilin, Chengdu and Guangzhou in China and from 123 healthy unrelated individuals in Germany. The DNA samples were extracted using Chelex method and amplified by PCR technique. The PAGE horizontal electrophoresis was used for typing the PCR product.DNA sequences were analyzed by ALF.RESULTS: There were nine alleles at FES locus in the Chinese population. The allele frequencies were FES*6,0-0. 0051; FES *8,0-0.0042; FES*9,0.0083-0.0202; FES*10,0.0202-0.0604; FES*11,0.4066-0.5101; FES*12,0.2424-0.3099;FES*13, 0.1860-0.2198; FES*14,0.0041-0.0165; and FES*15,0-0.0050, respectively. In the German population, a variation in 5 flanking region and nine alleles at FES locus were noted. The allele frequencies were FES*8,0.0120; FES*10a,0.02317; FES*10,0.0407; FES*11a,0.0122; FES*11,0.4146; FES*12a, 0.0041; FES*12, 0.2357; FES*13, 0.0447; and FES*14, 0.0041, respectively. The results of test for Hardy-Weinberg equilibrium showed that the genotype distributions observed in the populations were correspondent with the expected. CONCLUSION: There is a remarkable difference in the distribution of allele frequencies at FES locus between Chinese and German populations.
PMID: 10359868, UI: 99292969
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1999 Apr 10;16(2):77-80
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OBJECTIVE: To get preliminary genotype and allele frequency distributions of D6S366, D6S477, D12S375, D12S391 and PLA2A loci in Chinese Han population in Chengdu area and to validate more short Tandem repeat (STR) systems for forensic application. METHODS: The polymerase chain reaction (PCR) was used. Five STR systems (D6S366, D6S477, D12S375, D12S391 and PLA2A) were amplified on DNA samples, which were extracted from 108 unrelated individuals EDTA-blood by Phenol/Chloroform method. The PCR products were analyzed by PAG vertical electrophoresis. RESULTS: Seven alleles were found at D6S366 locus, nine alleles at D6S477 locus, five alleles at D12S375 locus, nine alleles at D12S391 locus and seven alleles at PLA2A locus. No deviations from Hardy-Weinberg equilibrium were observed. The heterozygosities observed were 0.69, 0.78, 0.81, 0.68 and 0.79 for D6S366, D6S477, D12S375, D12S391 and PLA2A respectively. The chances of exclusion were 0.3621, 0.6004, 0.4581, 0.7014 and 0.5589 and the discriminating powers were 0.79, 0.93, 0.86, 0.96 and 0.91. CONCLUSION: All of the five loci in this study were useful markers for individual identification and paternity test and for genetics purposes.
PMID: 10200358
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1999 Apr 10;16(2):65-69
OBJECTIVE: To understand the allele structure and reveal genetic polymorphism of Y chromosome specific short tandem repeat (Y-specific STR) loci in Chinese Han population. METHODS: The authors used a set of five Y-specific STR loci which were tetrameric tandem repeat loci chosen from the Genome Database. EDTA-blood specimens were collected from the unrelated individuals. DNA was extracted by Chelex method and amplified by the polymerase chain reaction (PCR). The PCR products were analyzed using both the PAGE horizontal electrophoresis with discontinuous buffer system and the automated fluorescence detection approach. RESULTS: The authors observed that the alleles at the five Y-specific STR loci were composed of some complex repeat structures. They successfully prepared a set of human allele ladders for the typing of the five Y-specific STRs and demonstrated the polymorphisms at the five Y-specific STR loci in Chinese Han population. CONCLUSION: Y-specific STRs are good genetic markers for the purpose of analysis of genetic relationship between populations. This preliminary study not only reveals allele frequencies and haplotype distribution of Y-specific STR in Chinese Han population, but also indicates a reference population for detecting male migration events and for reconstructing paternal history.
PMID: 10200355
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1998 Oct 10;15(5):293-6
OBJECTIVE: To understand the genetic relationship between Han population and Tibetan population, the genetic polymorphisms of two STR loci, TH01 and VWA were studied in the Tibetans in China. METHODS: EDTA-blood specimens were collected from 89 healthy unrelated Tibetan individuals in Lasa. DNA was extracted using Chelex method. The DNA samples were amplified by PCR technique, and the PAGE horizontal electrophoresis were used to typing the PCR products. RESULTS: There were five alleles at TH01 locus in Tibetan population.The alleles frequencies were TH01*6:0.097, TH01*7:0.227, TH01*8:0.091, TH01*9:0.481 and TH01*9.3:0.104. A total of 12 genotypes were observed in 77 individuals for TH01. For VWA locus there were seven alleles and the allele frequencies were VWA *14:0.101, VWA*15:0.034, VWA*16:0.208, VWA*17:0.303, VWA*18:0.208, VWA*19:0.129 and VWA*20:0.017. A total of 20 genotypes for VWA were observed in 89 individuals. The results of test for Hardy-Weinberg equilibrium showed that the genotype distributions observed at both STR loci were correspondent with those expected(chi-square =7.421 df =8 P>0.05 for TH01; chi-square =19.61 df =14 P>0.05 for VWA). CONCLUSION: There is no significant difference between Han and Tibetan populations in allele frequencies at TH01 and VWA loci. The results of analysis using genetic distance and phylogenetic tree indicate that Tibetan population is identical with Han population at TH01 and VWA loci .
PMID: 9758877, UI: 98433046
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1998 Aug;15(4):214-7
OBJECTIVE: To understand the distribution of allele frequencies of inter-alpha-trypsin inhibitor(ITI) in Chinese populations. METHODS: The polymorphism of this protein in six Chinese populations was investigated using isoelectric focusing followed by immunoblotting technique. RESULTS: Three common alleles, ITI*1, ITI*2, and ITI*3 were observed in four populations, namely Han living in Jilin, Mongol in Hailaer, Tibetan in Lasa, and Bai in Dali respectively. In other two populations, Zhuang in Guangxi and Han in Guangdong, only ITI*1 and ITI*2 were observed. For these populations, the frequency of ITI*1 ranges from 0.5500 to 0.7525; that of ITI*2 from 0.2475 to 0.4322; and that of ITI*3 from 0.0034 to 0.0729. CONCLUSION: This study reveals that there is no parallel relationship between variation of allele frequencies and geographic differences.
PMID: 9691128, UI: 98358239
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1998 Jun 10;15(3):147-50
OBJECTIVE: To understand the genetic relationship between different populations in China and to obtain the preliminary data on the genetic poly- morphisms of D20S161 in seven populations in China. METHODS: EDTA-blood specimens were collected from 753 healthy unrelated individuals in seven Chinese populations, including Chengdu(Han), Guangzhou(Han),Jilin(Han),Lasa (Tibetans),Dali(Bai), Nanning(Zhuang) and Hailaer(Menggu),respectively. DNA was extracted with Chelex method. The DNA samples were amplified by PCR technique, and the PAGE horizontal electrophoresis was used for typing the PCR products. RESULTS: Seven alleles at D20S161 locus were observed in six populations,while six alleles at D20S161 were observed in one population in Dali(Bai). The numbers of genotypes observed were 25, 19,21,19,16,20 and 22 for Chengdu(Han), Guangzhou(Han), Jilin(Han), Lasa(Tibetans), Dali(Bai), Nanning(Zhuang)and Hailaer(Menggu), respectively.The allele frequencies were D20S161*16:0.0220-0.0657, D20S161*17:0.1429-0.2947,D20S161*18: 0.3237-0.4835. D20S161*19:0. 0909-0.1850,D20S161*20:0.1263-0.1786,D20S161* 21: 0.0421-0.1010, D20S161*22:0-0.0250.A total of 26 genotypes were observed in 753 individuals. The heterozygosity was between 65.31% 80.41% for the seven populations. The results of test for Hardy-Weinberg equilibrium showed that the genotype distributions observed were correspondent with the expected. CONCLUSION: There are seven alleles in Chinese populations, of which D20S161*18 is most frequently observed. No significant difference in the distribution of allele frequencies at D20S161 (X2=57.9342,P>0.01) was noted among the seven Chinese populations. D20S161 may be a very useful genetic marker for both paternity test and personal identification of casework in forensic medicine and for the purpose of population genetics.
PMID: 9621121, UI: 98285869
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1998 Feb 10;15(1):24-6
OBJECTIVE: To find more STR loci usable in forensic medicine and understand the distribution of the genetic polymorphisms of two STR loci FABP2 and F13A1 in the Han population in Chengdu. METHODS: EDTA-blood specimens were collected from 115 healthy unrelated Han individuals in Chengdu, DNA was extracted using Chelex method. The DNA samples were amplified by PCR technique, and the PAGE horizontal electrophoresis was used for typing of the PCR products. RESULTS: The allele frequencies were FABP2*1:0.513,FABP2*2:0.096, FABP2*3:0.330, FABP2*4:0.052, FABP2*5:0.009, and 10 genotypes were observed in 115 individuals for FABP2; while for F13A1, the allele frequencies were F13A1*1:0.128, F13A1*2: 0.053, F13A1*3:0.288, F13A1*4:0.527, F13A1*5:0.004 and 10 genotypes were observed in 113 individuals. The result of test for Hardy-Weinberg equilibrium showed that the genotype distribution observed at FABP2 locus was correspondent with the expected. CONCLUSION: FABP2 may be a useful marker for paternity test or personal indentification of biological stain. On the other hand, more studies need to be done to understand the polymorphism at F13A1 locus in Chinese population because a deviation from Hardy-Weinberg equilibrium has been observed in this Han population.
PMID: 9456361, UI: 98126283
Chung Hua I Hsueh I Chuan Hsueh Tsa Chih 1998 Feb 10;15(1):13-6
OBJECTIVE: To understand the distribution of allele frequencies of blood factor XIIIB subunit(FXIIIB) in Chinese populations and evaluate the genetic polymorphism of FXIIIB for the purposes of population genetics and forensic haemogenetics. METHODS: The genetic polymorphism of FXIIIB subunit in seven Chinese populations was investigated. Isoelectrofocusing technique on polyoacrylamid gels followed by immunoblotting was used to determine the phenotype of individuals in each population sample. RESULTS: There were three common alleles in all the seven Chinese populations. The frequency of FXIIIB*3 was the highest, that of FXIIIB*2 was the lowest, and the one of FXXIIIB*1 was at the middle. All of them reached to the polymorphism's level. A rare variant allele was also found in some Chinese populations. Comparison of the constituents of FXIIIB phenotypes in the seven populations showed that there was no significant difference (P>0.05). The distribution of the allele frequencies in these populations reflected most likely the mode of the distribution in all Chinese populations. The phylogenetic tree and genetic distance, based on the allele frequencies of FXIIIB differentiated the populations in the world into the main ethnic groups as what other authors reported. CONCLUSION: FXIIIB is a useful genetic marker for population genetics and forensic haemogenetics.
PMID: 9456360, UI: 98126280
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