Identification of 5 Novel Y Chromosome STR Loci and Haplotype Distribution in Chinese Han Population (Guangzhou) / 中山大学学报(医学科学版)

[Objective] To screen and identify the new Y-STR loci from the Y chromosome and examine the polymorphism of these Y-STR loci. [Method] To seek and locate the position of 5 Y-STR loci, including DYS709, DYS720, DYS721, DYS722, and DYS723, and perform sequencing of these 5 Y-STR loci. Then to investigate the polymorphism in unrelated Chinese Han males. [Results] Five Y-STR loci were identified from Y chromosome sequence. By scrutinizing the physical position on Y chromosome of previously reported Y-STRs, we found that three loci were novel and two loci overlapped with two loci published only online. All loci could be male-specifically amplified with a product size ranging from 185 bp to 278 bp. After 108 males of the Chinese Han Population (Guangzhou) were examined, we found 5 DYS709, 11 DYS720 alleles, 4 DYS721 alleles, 6 DYS722 alleles, and 6 DYS723 alleles. A total of 95 haplotypes were identified, 84 of which were unique, and with a haplotype diversity of 0.997 2±0.001 2(HD±SE). [Conclusion] This set of Y-STRs can be used as Y chromosome genetic makers in related fields.

Genetic Polymorphism Analysis of Nine Short Tandem Repeat Loci in Han Population of Southern China / 中山大学学报(医学科学版)

[Objective] To investigate the genetic polymorphism of nine short tandem repeat (STR) loci in Han population of Southern China.[Methods] The 9 STR loci (D11S2368,D12S391,D13S325,D18S1364,D22-GATA198B05,D6S1043,D2S1772,D7S3048,D8S1132) were amplified with STR＿Typer＿10＿v1 kit for 1619 unrelated individuals of Han population in Southern China.The PCR products were analyzed with 3100 genetic analyzer and GeneMapper ID 3.1v software.The forensic efficiency parameters were calculated by PowerState V12.xls and the Hardy-Weinberg equilibrium was tested with Arlequin 3.11v software.[Results] The genetic polymorphism of 9 STR loci in Han population of Southern China was quite high.The heterozygosities (H) ranged from 0.818 to 0.879.The match probabilities (MP) ranged from 0.031 to 0.063.The powers of discrimination (PD) ranged from 0.937 to 0.970,the probabilities of exclusion (PE) ranged from 0.632 to 0.753,the polymorphism information contents (PIC) ranged from 0.80 to 0.88 and the typical paternity indices (TPI) ranged from 2.74-4.13,respectively.These data were in accord with Hardy-Weinberg equilibrium (P ＞ 0.05).[Conclusion] Nine STR loci are highly polymorphic in Chinese Han population.They are new useful tools for paternity testing,individual identification,and for the research of human genetics and anthropology.

Linkage analysis of susceptibility genes for familial schizophrenia on chromosome 1 in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.</p><p><b>METHODS</b>A genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.</p><p><b>RESULTS</b>Multipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.</p><p><b>CONCLUSION</b>These results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.</p>

Study on the mutation of human short tandem repeats at three loci / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To understand the mutational patterns and mechanism of short tandem repeats(STRs).</p><p><b>METHODS</b>The DNA samples of 19 parent-child pairs with mutations in three loci (FGA, D12S391, and D11S554) were genotyped by silver staining on STR. Alleles to be sequenced were excised from gels, reamplified by PCR, and purified. Sequencing was performed by use of cycle sequencing.</p><p><b>RESULTS</b>There were 18 out of 19 pedigrees in which the 'new' alleles gained or lost a single repeat (8 gains, 7 losses, and 3 being indistinguishable). Only one pedigree lost two repeats. In the 19 pedigrees, there were 13 pedigrees whose 'new' alleles came from fathers, 3 from mothers, 3 from either father or mother. The ratio was 4 1 between fathers and mothers. The mutation of three STR loci occurred in the long, uninterrupted tetranucleotide repeat regions ('CTTT' in FGA, 'AGAT' in D12S391, and 'AAAG' in D11S554).</p><p><b>CONCLUSION</b>Single- step mutations accounted for 95% of STR mutation events in these three loci: FGA, D12S391, and D11S554. The rest were double step mutations. There was no insertion or deletion of an incomplete repeat in any of the pedigrees. The mutation was mainly caused by fathers. The long, uninterrupted tetranucleotide repeats in these three loci might be susceptible to mutation.</p>

A linkage analysis of quantitative trait loci for familial schizophrenia on chromosome 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia.</p><p><b>METHODS</b>A series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1.</p><p><b>RESULTS</b>Haseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis.</p><p><b>CONCLUSION</b>The results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.</p>

Distribution of four STR loci's haplotypes in Guangdong Han Population / 中国法医学杂志

To investigate haplotype distribution of the Y-chromosome STRs (DYS19, DYS390 and DYS389 locus) in Han population in Guangdong area. The STRs were typed by poplymerase chain reaction followed by discontinuous PAGE system. Among 130 unrelated males, 81 different haplotypes were observed, 52 out of them were found only one time. The haplotype genetic diversity, discrimination power and non-father exclusion chance are 0. 9989, 0. 9824, 0. 9824, respectively. The high informative haplotypes make these STRs useful for the forensic individual identification and paternity testing.

Investigation of species specificity on 20 PCR-based Human STR systems / 中国法医学杂志

To evaluate species specificity of 20 STRs loci used in our lab. Human DNA and 10 different kinds of common animals' DNA were amplified separately. The PCR products were analysed with PAGE. There are amplified products in DYS388, DYS389, DYS390, D7S809, D13S631 loci of human 'DNA, but not of 10 different kinds of animal DNA tested. There were amplified products in TH01, vWA, AR, CD4, FABP loci for human and animals' DNA, but the lengths of amplified fragment were distinctly different between human and animals. There were products of FES, D12S391, CSF1PO, D19S253, D21S11, FGA, DYS19 loci for human and animals DNA, but the product lengths were not different between human and animals. There were PCR products in SE33 and D11S554 loci for human and animals, their amplified fragment lengths were within the same electrophoretic field. 10 STR loci, such as TH01 etc, were highly specific for human being and the amplified fragments lengths of 8 STR loci, such as FES etc, were different between human and animal tested.

Analysis of mutation in short taudem repeat / 中国法医学杂志

By analysing the 300 cases of paternity test in our lab in the recent year, we have demonstrated that mutation rates in STR loci are very high. The experimental steps include extracting DNA by chelex 100, amplification of DNA, polyacrylamide gel electrophoresis, silver staining, DNA typing by standard samples. The STR mutations in 11 cases among 300 paternity test cases were found, induding D11S554 locus6 cases, D19S253 locus2 cases, SE33 locuslcase, D12S391 locus 1 case, D13S631 locus 1 case. The results indicated that high mutation rates in STR loci should be considered when STR genotyping are applied to paternity test.

The calculation and its standard of identifying paternity in the cases of absence mother / 中国法医学杂志

To establish a calculation method of paternity probability in cases of absence of mother. Calculating the accumulated non-father exclusion probability of multiple polymorphic DNA loci was performed. The results showed that in cases of inheritance with Mendelian Law, through testing 8 or more polymorphic DNA loci, the paternity probability may reach 0. 9990 or more. In cases of paternity exclusion, exclusion 3 or more than 3 loci were required. For the purpose of identifying paternity in cases of absence of mother, more than 8 polymorphic DNA loci must be tested. The paternity probability must be more than 0. 9990 in cases of paternity inclusion and in cases of paternity exclusion, 3 or more loci of exclusion is needed.

THE PHENOTYPE DISTRIBUTION OF THE RED CELL GLYOXALASE I IN GUANGZHOU AREA AND PHENOTYPING OF GLYOXALASE I IN BLOODSTAINS / 中国法医学杂志

The phenotype distribution of human red cell glyoxalase I of a Han population in Guangzhou area was studied using mixed starch/agarose gel electrophoresis. The phenotype frequencies were: GLOI 1-1 2.57％; GLOI 2-1 29.17％; and GLOI 2-2 68.26％. The gene frequencies were: GLOI~1 0.1716; GLOI~2 0,8284. The phenotyping of GLOI was carried out satisfactorily in 35 bloodstains kept in room temperature for 20 days in 7 bloodstains stored in 4℃ for 105 days exposed in sunshine for 8 hours, as well as kept outdoor overnight, and in 10 putrefactive bloodstains kept in room temperature for 9 days.The GLOI were destroyed in 6 of 7 bloodstains washed by runing water for 2 hours.

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.