Genetic polymorphisms of six Y chromosome short tandem repeat loci in Chinese Korean ethnic group / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the allelic sequences and genetic polymorphism of six short tandem repeats (STRs) loci on Y chromosome, including DYS441, DYS442, DYS443, DYS444, DYS445 and DYS446 in Chinese Korean ethnic males from Yanbian region of Jilin province, China, and to construct a preliminary database.</p><p><b>METHODS</b>Allele frequencies of the six STR loci in 205 Chinese Korean ethnic individuals were analyzed by multiplex polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE).</p><p><b>RESULTS</b>Respectively, 8, 7, 7, 5, 6 and 9 alleles were detected for each of the locus. Together they have formed 151 haplotypes, with a diversity of 0.9937.</p><p><b>CONCLUSION</b>The six STR loci included in this study were found to be highly polymorphic, and may provide useful markers for genetic analysis.</p>

Mitochondrial DNA coding region 3954-4506 polymorphism in Korean Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the sequence polymorphism of mtDNA coding region encompassing nt3954-4506 in the Korean Chinese population of Yanbian area.</p><p><b>METHODS</b>Polymerase chain reaction (PCR) and direct sequencing method were used to detect the haplotype distribution of mtDNA coding region in 198 Korean Chinese individuals.</p><p><b>RESULTS</b>Twenty-one haplotypes were observed in the 198 unrelated individuals. The genetic diversity was 0.5906 and the random match probability was 0.4124. Compared with the Andersonos sequence, 19 nucleotide variants were found, of which 14 were previously registered in MITOMAP, and 5 were novel.</p><p><b>CONCLUSION</b>The obtained data suggest that these sequence polymorphisms are valuable genetic markers for personal identification when combined with mtDAN control region investigation, thus could be used as basic data for the forensic application in Korean Chinese population.</p>

Genetic polymorphisms of six X-short tandem repeats loci in Chinese Korean / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic polymorphisms of DXS7132, DXS6854, DXS6797, DXS9898, DXS8378 and GATA31E08 short tandem repeats (STRs) loci in Chinese Korean ethnic group of Yanbian, Jilin, and to construct a preliminary database.</p><p><b>METHODS</b>The allele frequencies of the six STRs loci in Chinese Korean ethnic individuals were analyzed by multiplex polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE).</p><p><b>RESULTS</b>Total of 8, 6, 8, 8, 5 and 10 alleles were observed in each locus respectively. All loci (in female) met Hardy-Weinberg equilibrium (P > 0.05). The statistical analysis of the 6 STR loci showed the heterozygosities were more than 0.4660, the polymorphic information contents (PIC) were more than 0.5293, the haplotype diversity were more than 0.9993, power of discrimination (PD) in females and males were more than 0.7737 and 0.6107, respectively.</p><p><b>CONCLUSION</b>The results showed that, all the 6 STR loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Chinese Korean ethnic group genetic database and play an important role in genetic study of Chinese population.</p>

Study on the probability of hepatitis B virus infection at public service places / 中华流行病学杂志

Objective To provide data for the control and prevention of hepatitis B and HBV surface antigen(HBsAg)status among the appliances and practitioners working in the public service places.Methods 63 beauty parlors,barber shops and bathing centers selected under stratified randomization sampling method and 682 workers were investigated through questionnaire.HBsAg from the appliances of the public service places and employee was detected by RIA.Results Two main sanitizing modes that including alcohol cleaning(34.60%)and ultraviolet light disinfection(30.79%)were used.The rates of testing on HBsAg among the appliances were 2.13% at the public service places,and were 0.63%,2.67% and 3.70% in large-.medium-and small-sized appliances respectively.The rate of testing on HBsAg on large-,medium-and small-sized appliances were statistically different(χ2=6.68,P＜0.05).The positive rates of HBsAg on the appliances of beauty parlors,barbering shops and footbath inns were 2.97%,0.61% and 3.42% respectively.People working in different service sites had different rates of HBsAg:those who worked at the‘acne needle'and the forceps were 5.13% and 4.17%.The positive rate of HBsAg among the workers in the public service places was 7.13%.The rates of HBsAg among the workers in large-,medium-and small-sized public service places were 7.34%,8.33% and 2.94% respectively.The rates of HBsAg among the workers in beauty parlors,barbering shops,footbath inns and bathing centers were 9.01%,6.37%,4.35% and 7.29% respectively.HBsAg positive rates were different among the workers working at different service sites:13.33% at tattoo business.12.68% in pedicures workers and 8.03% in massagists.Conclusion It is important to improve the sanitizing management of the appliances used in the public service places and to improve the knowledge,attitude,as well as practice of vaccination on hepatitis B among those populations.

Genetic polymorphisms of short tandem repeat loci D4S2368, D6S1043, D9S925 from Korean ethnic group of JiLin / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To understand the allele structure and genetic polymorphism at D4S2368, D6S1043, D9S925 short tandem repeat (STR) loci in Korean ethnic group of Jilin, and to construct a preliminary database.</p><p><b>METHODS</b>The allele frequencies of the three STRs loci in 310 unrelated individuals from Korean ethnic individuals were analyzed by polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE).</p><p><b>RESULTS</b>Seven, thirteen, and nine alleles were observed at D4S2368, D6S1043, and D9S925 loci, respectively, and all loci met Hardy-Weinberg equilibrium (except D6S1043). The statistical analysis of 3 STR loci showed the heterozygosities were more than 0.717, the polymorphic information contents (PIC) were more than 0.670; the combined power of discrimination (PD) and the power of exclusion (PE) were more than 0.9995 and 0.952 respectively.</p><p><b>CONCLUSION</b>The three loci in this study are found to have high heterozygosity and polymorphic information content, so they can provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Korean ethnic group genetic database and play an important role in Chinese population genetic application.</p>

Genetic polymorphisms of Penta D and E loci in Korean racial Chinese of Yanbian area in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze genetic polymorphisms of Penta D and E loci in Korean racial Chinese of Yanbian area.</p><p><b>METHODS</b>One hundred unrelated individuals of Korean racial Chinese were analyzed by methods of PCR and restriction fragment length polymorphism.</p><p><b>RESULTS</b>Eight alleles and 22 genotypes were observed from Penata D locus, and 16 alleles and 35 genotypes were observed from Penta E locus.</p><p><b>CONCLUSION</b>The distribution of two locus genotypes in Korean racial Chinese of Yanbian area met Hardy-Weinberg equilibrium. And the obtained data can be used to individual identity, paternity testing and the study of Korean ethnic group of Chinese population.</p>

Analysis of Polymorphism of Penta E and Penta D in Korean / 대한법의학회지

A duplex PCR reactions were designed for two pentameric (Penta D, Penta E) short tandem repeats (STR) loci to study the allele frequencies and the applicability of genetic variation in these loci to forensic case works. For 323 unrelated Koreans DNA was extracted using Qiagen DNA blood kit. The fluorescently labeled amplified products were analyzed by 8M urea, 5% long range gel electrophoresis in ABI-377 sequencer and followed data analysis by Genescan Analysis and Genotyper DNA fragment analysis software. The PD, PIC and PE were above 0.92, 0.76 and 0.66, respectively. No deviation from Hardy-Weinberg equilibrium was observed of Penta D locus (p=0.35, observed number>1).

Analysis of Five Coding Region Polymorphism in Mitochondrial DNA / 대한법의학회지

For evaluation of the five coding region (CR) polymorphism in mitochondrial DNA (mtDNA); we had performed PCR and direct sequencing in 599 unrelated Korean who showed the identical DNA type in D-loop mitochondrial DNA analysis for total 2,810 bp fragment. Following the sequence analysis, all the sequences of five regions were compared respectively to Anderson standard sequence to investigate the nucleotide variations. The result showed, a total 4,565 nucleotide variations were observed at 190 positions in five CR as 3,931 (86.11%) substitutions, 32 (0.7%) insertions, and 602 (13.19%) deletions and the allele diversities (h) were higher than 0.9992 when adding each CR or combined CR to D-loop analysis in mtDNA. In conclusion, we could confirm the five CR are useful for forensic testing through the nucleotide variation and hapolotypes polymorphism.

Polymorphism and Haplotypes of 10 Y-STR Loci in Koreans / 대한법의학회지

Ten Y chromosomal STRs (DYS434, DYS435, DYS437, DYS438, DYS439, DYS441, DYS442, DYS443, DYS444, DYS445) have been typed in 1159 Korean males for the purpose of application to male identification, population genetics and evolution study. Multiplex PCR method was used in amplifying simultaneously these loci. In each locus, 3-8 allele were observed, and no 'interallele' was observed. The gene diversity varied from 0.3131 at DYS435 to 0.7179 at DYS441. Among 610 father-son pairs, mutation was observed 2 cases in DYS434, 1 case in DYS435, 3 cases in DYS437, 1 case in DYS439, 2 cases in DYS441, 1 case in DYS442 and 4 cases in DYS444. No two or more simultaneous mutations were identified in one father-son family pair. In 1159 Korean males, 641 different haplotypes were observed, and 488 haplotypes were not shared by others. The haplotype diversity was 0.9911, Probability of Identity was 0.0098. When using the ten loci together with DYS19, DYS385, DYS388, DYS389, DYS390, DYS391, DYS392, DYS393 which were already used in the Department of Forensic Medicine, College of Medicine, Seoul National University, the haplotype diversity was 0.9997, Probability of Identity was 0.0012.

Quadruplex PCR for 8 Autosomal STR Loci in Korean / 대한법의학회지

Two quadruplex PCR reactions were designed for 7 tetrameric (D3S2406, D4S2368, D5S818, D7S821, D9S925, D13S317, D19S253) and one trimeric (D6S1043) short tandem repeats loci to study the allele frequency and the applicability of genetic variation in these loci in forensic case works. For 310 unrelated Koreans DNA was isolated from peripheral blood using phenol/chloroform method. Quadruplex I was consisted of D4S2368, D6S1043, D7S821, D9S925 and quadruplex II D3S2406, D5S818, D13S317, D19S253. The amplified products were analyzed by 5%polyacrylamide gel electrophoresis followed by silver staining. The heterozygosity in each loci ranged 92.91-66.13%, and PD(Power of Discrimination) was above 0.85 in each loci. Every loci except D6S1043 followed hardy-Weinberg expectation. The cumulative PI was low as 1.65x10-10. Two mutations were noted, one in D19S253 and the other in D9S925 among 234 gametes. With these results above eight STR loci studied here proved to be highly polymorphic enough to be used in forensic field. This study provides valuable population data in these loci for Korean.

Quadruplex PCR for 8 Autosomal STR Loci in Korean / 대한법의학회지

Two quadruplex PCR reactions were designed for 7 tetrameric (D3S2406, D4S2368, D5S818, D7S821, D9S925, D13S317, D19S253) and one trimeric (D6S1043) short tandem repeats loci to study the allele frequency and the applicability of genetic variation in these loci in forensic case works. For 310 unrelated Koreans DNA was isolated from peripheral blood using phenol/chloroform method. Quadruplex I was consisted of D4S2368, D6S1043, D7S821, D9S925 and quadruplex II D3S2406, D5S818, D13S317, D19S253. The amplified products were analyzed by 5%polyacrylamide gel electrophoresis followed by silver staining. The heterozygosity in each loci ranged 92.91-66.13%, and PD(Power of Discrimination) was above 0.85 in each loci. Every loci except D6S1043 followed hardy-Weinberg expectation. The cumulative PI was low as 1.65x10-10. Two mutations were noted, one in D19S253 and the other in D9S925 among 234 gametes. With these results above eight STR loci studied here proved to be highly polymorphic enough to be used in forensic field. This study provides valuable population data in these loci for Korean.

Study on DXS7132 and GATA31D10 Loci in Korean Population / 대한법의학회지

The validation study for two STR loci on X-chromosome, DXS7132 and GATA31D10, was done including allelic distribution and frequency of each allele to use these results for individual identification and paternity testing. For 496 unrelated Koreans, above two STR loci were amplified simultaneously using duplex PCR amplification method. The amplified products were analyzed by polyacrylamide gel electrophoresis followed by silver staining. In male DXS7132 locus revealed 7 different alleles ranging from 276bp to 300bp. The largest allele was consisted of 14 repetition of [TCTA] unit and took 0.3417. The allele 15 followed next as 0.3165 and allele 13 as 0.1726. In female general distribution was same except one allele, allele 18 was found additionally. The heterozygosity was 0.7706 and 23 different genotypes were found. Polymorphism information content(PIC) was 0.727. Two cases of mutation were noted in DXS7132 locusIn both male and female 7 different alleles were noted in GATA31D10 locus and the alleles ranged from 195bp to 231bp. The allele 15(199bp) took the majority of all as 0.825. The other alleles showed rather relatively low frequency. The heterozygosity was 0.2385 and 11 different genotypes were found. PIC was 0.2521, and no mutation was noted in GATA31D10 locus. Considering these two loci together, 22 different halpotype were noted.