Analysis of Genetic Polymorphism and Population Genetic Structure of 57 Autosomal InDel Loci in Beichuan Qiang Population / 法医学杂志

OBJECTIVES@#To investigate the genetic information of 57 autosomal InDel loci (A-InDels) included in AGCU InDel 60 fluorescence detection kit in the Beichuan Qiang population of Sichuan Province and evaluate its application value in forensic medicine.@*METHODS@#A total of 200 unrelated healthy individuals from Beichuan Qiang population of Sichuan Province were typing detected by AGCU InDel 60 fluorescence detection kit. Allele frequencies and population genetic parameters of the 57 A-InDels were statistically analyzed and compared with the available data of 26 populations.@*RESULTS@#After Bonferroni correction, there was no linkage disequilibrium between the 57 A-InDels, and all loci were in Hardy-Weinberg equilibrium. Except for rs66595817 and rs72085595, the minor allele frequencies of 55 A-InDels were above 0.3. PIC ranged from 0.298 3 to 0.375 0, CDP was 1-2.974 8×10-24, CPEduo was 0.999 062 660, and CPEtrio was 0.999 999 999. The calculation of the genetic distance showed that Beichuan Qiang population had the closest genetic distances with Beijing Han and South China Han populations, but far away from African populations.@*CONCLUSIONS@#The 57 A-InDels in AGCU InDel 60 fluorescence detection kit have a good genetic polymorphism in Beichuan Qiang population of Sichuan Province, which can be used as effective supplemental for individual identification and paternity identification in forensic medicine.

Application of SifaInDel 45plex System in the Han and Mongolian Populations / 法医学杂志

OBJECTIVES@#To investigate the genetic polymorphism of InDel loci in SifalnDel 45plex system in the Han population in Jiangsu Province and the Mongolian population in Inner Mongolia, and to evaluate the effectiveness of the system in forensic medicine.@*METHODS@#SifaInDel 45plex system was used for genotyping in blood samples of 398 unrelated individuals from the above two populations, and allele frequencies and population genetic parameters of the two populations were calculated respectively. Eight intercontinental populations in the gnomAD database were used as reference populations. The genetic distances between the two studied populations and eight reference populations were calculated based on the allele frequencies of 27 autosomal-InDels (A-InDels). The phylogenetic trees and multidimensional scaling (MDS) analysis diagrams were constructed accordingly.@*RESULTS@#Among two studied populations, the 27 A-InDels and 16 X-InDels showed no linkage disequilibrium between each other and the allele frequency distributions were in Hardy-Weinberg equilibrium. The CDP of the 27 A-InDels in two studied populations were all higher than 0.999 999 999 9, and the CPEtrio were all less than 0.999 9. The CDP of the 16 X-InDels in Han in Jiangsu and Mongolian in Inner Mongolia female and male samples were 0.999 997 962, 0.999 998 389, and 0.999 818 940, 0.999 856 063, respectively. The CMECtrio were all less than 0.999 9. The results of population genetics showed that the Jiangsu Han nationality, Inner Mongolia Mongolian nationality and East Asian population clustered into one branch, showing closer genetic relationship. The other 7 intercontinental populations clustered into another group. And the above 3 populations displayed distant genetic relationships with the other 7 intercontinental populations.@*CONCLUSIONS@#The InDels in the SifaInDel 45plex system have good genetic polymorphism in the two studied populations, which can be used for forensic individual identification or as an effective complement for paternity identification, and to distinguish different intercontinental populations.

Genetic Polymorphism and Forensic Application of 47 Autosomal InDel Loci in 5 Chinese Ethnic Groups / 法医学杂志

Objective To investigate the population genetic data of 47 autosomal insertion/deletion （InDel） polymorphism genetic markers involved in AGCU InDel 50 kit in Guangdong Han, Guangxi Zhuang, Guangxi Yao, Guangxi Jing, and Guangxi Mulam, and to evaluate their application in forensic DNA identification. Methods Multiplex amplification of the 768 unrelated individuals from the 5 ethnic groups mentioned above was performed with the AGCU InDel 50 kit. Genotyping was carried out by 3500xL gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal InDel loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal InDel loci confirmed to the Hardy-Weinberg equilibrium in Guangdong Han and Guangxi Zhuang. Except for rs139934789, the other 46 loci confirmed to the Hardy-Weinberg equilibrium in Guangxi Yao, Guangxi Jing, and Guangxi Mulam. The results of genetic variation analysis among the populations showed that 1.12% of genetic variation was caused by ethnic group differences. The cumulative discrimination power of 47 autosomal InDel loci for the 5 ethnic groups were all above 0.999 999 999 999 999. The cumulative probability of exclusion for each ethnic group was less than 0.999 9. The two Y-InDels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 InDel loci have a relatively good genetic polymorphism in the 5 Chinese ethnic groups, and can be used for forensic individual identification and as effective supplements for paternity testing.

Identification of Panax ginseng and Panax quinquefolius by Mitochondrial Cox Ⅱ Intron / 中国实验方剂学杂志

Objective:To develop a simple and accurate method for molecular authentication of Panax ginseng and P. quinquefolius.Method:The mitochondrial cox Ⅱ sequences of P. ginseng and P. quinquefolius were amplified by polymerase chain reaction（PCR）with universal primers. PCR products of the two species were sequenced in both directions, and sequence alignments were conducted for intron length polymorphisms exploitation. Multiplex PCR was established for the identification of P. ginseng and P. quinquefolius with their specific primers，which were designed respectively based on their insertion sequences. And the limit of detection of the multiplex PCR was also determined.Result:The insertion/deletion sequences were exploited in mitochondrial cox Ⅱ. Under the established multiplex PCR assay，P. ginseng generated a 729 bp specific band, while P. quinquefolius yielded a 141 bp specific amplicon，and the mixture of the two species yielded both 729 bp and 141 bp fragments. The established multiplex PCR assay could detect 0.1% of intentional adulteration of P. quinquefolius into P. ginseng, with down to 0.001 ng of genomic DNA.Conclusion:The established multiplex PCR assay can accurately identify P. ginseng and P. quinquefolius from different sources, without the optimization of reaction system and the introduction of additional mismatches，so as to provide a new molecular marker method for identifying botanical origin of P. ginseng and P. quinquefolius.

Genetic diversity of Indo-China rice varieties using ISSR, SRAP and InDel markers

Rice is believed to have originated from Indo-China, area between China and India, and then spread throughout the world. The Indochina region mainly includes countries like Thailand, Laos and Vietnam, which are the world’s major rice exporters. Rice varieties grown in this area are highly diverse due to their different environment, ecosystem and climatic conditions. The objective of this study was to evaluate the genetic relationship of Indochina rice varieties using intersimple sequence repeat (ISSR), sequence-related amplified polymorphism (SRAP) and insertion–deletion (InDel) markers. Forty-six rice varieties, including 16, 4,11 and 15 from Thailand, China, Laos and Vietnam, respectively were used in this study. Seventeen of the 20 ISSR primers showed 82.96% polymorphism. At the same time, 17 of the 30 primer pairs of SRAP marker showed clearDNA amplification, which resulted in 84.79% polymorphism. Ninety-seven of 133 InDel markers have about 99.47% polymorphism. Three markers showed average PIC score ranging from 0.20 to 0.26. When the analysis was conducted using UPGMA clustering method, it was found that the combined data from three markers gave a better result than each marker separately. The results from clustering analysis showed that all accessions can be grouped based on their location and can be categorized into two major groups. Useful results from this study could bring substantial benefits and ultimately help the rice breeders to develop elite rice varieties in future.

Detection of Ancestry Information of Urumqi Mongolians Based on the AIM-InDels Loci Multiplex System / 法医学杂志

Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents （East Asia, Europe and Africa） as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%.

Development and characterization of InDel markers for Lupinus luteus L. (Fabaceae) and cross-species amplification in other Lupin species

Background: Strong artificial selection and/or natural bottle necks may limit genetic variation in domesticated species. Lupinus luteus, an orphan temperate crop, has suffered diversity reductions during its bitter/sweet alkaloid domestication history, limiting breeding efforts and making molecular marker development a difficult task. The main goal of this research was to generate new polymorphic insertion­deletion (InDel) markers to aid yellow lupin genetics and breeding. By combining genomic reduction libraries and next generation sequencing, several polymorphic InDel markers were developed for L. luteus L. Results: A total of 118 InDel in silico polymorphic markers were identified. Eighteen InDel primer sets were evaluated in a diverse L. luteus core collection, where amplified between 2­3 alleles per locus. Observed heterozygosity (HO; 0.0648 to 0.5564) and polymorphic information content (PIC; 0.06 to 0.48) estimations revealed a moderate level of genetic variation across L. luteus accessions. In addition, ten and nine InDel loci amplified successfully Lupinus hispanicus Boiss & Reut, and Lupinus mutabilis Sweet, respectively, two L. luteus close relatives. PCA analysis identified two L. luteus clusters, most likely explained by the domestication species history. Conclusion: The development of InDel markers will facilitate the study of genetic diversity across L. luteus populations, as well as among closely related species.

Research Progress on InDel Genetic Marker in Forensic Science / 法医学杂志

Genetic markers in forensic DNA typing experienced the variable number of tandem repeats （VNTR） sequences and the short tandem repeats （STR） sequences. With the emerge of sequencing technology, the third generation of genetic markers were found out, which usually have two alleles including single nucleotide polymorphism （SNP） and insertion/deletion （InDel）, also known as biallelic genetic markers. Because of the insertions or deletions of DNA fragments, InDel genetic marker reveals DNA fragment length polymorphism and widely distributes across the whole genome. InDel genetic marker is numerous and has the characteristics of STR and SNP genetic markers, which has been applied in the fields of genetics and anthropology. This review focuses on the research progress of InDel genetic marker in forensic science, aiming to review and summarize the main research findings in recent years and provide clues for future researches.

Sixty-six Biallelic Genetic Markers on Y chromosome by MALDI-TOF-MS / 法医学杂志

Objective T o analyse the genetic polym orphism s of 66 biallelic genetic m arkers on Y chro-m osom e in E astern C hinese H an population, and evaluate their values in forensic application. Methods G enotyping of 66 biallelic genetic m arkers on Y chrom osom e w as studied in 205 unrelated m ales of E astern C hinese H an population by m ultiplex PC R com bined m atrix-assisted laser desorption/ionization tim e-of-flight m ass spectrom etry (M A L D I-T O F-M S ). T he allele frequencies on the loci to be tested w ere calculated by direct counting m ethod, and the gene diversity (G D ) and haplotype diversity (H D ) w ere calculated by corresponding form ulas. T he haplotypes of this system w ere tested by softw are A rlequin v3.5.2.2 and the com parison of population genetics w ere analyzed. Results A total of 60 biallelic genetic m arkers on Y chrom osom e w ere polym orphic in m ales of E astern C hinese H an population, and the ranges of G D w ere from 0.0385 to 0.5019. E ighty-five different haplotypes w ere observed and the H D w as 0.9703. T he differences of partial SN P loci betw een the H an population of E astern C hina and that of X injiang and G uangdong w ere statistically significance. Conclusion Sixty biallelic genetic m arkers and the detection system can com plem entally provide genetic inform ation in kinship testing and individual identification. T he M A L D I-T O F-M S technology is able to type biallelic genetic m arkers.

Genetic Polymorphisms of 30 InDel Loci in Ewenki Ethnic Group from Inner Mongolia / 法医学杂志

OBJECTIVES@#To study the genetic polymorphisms of 30 insertion/deletion （InDel） loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia.@*METHODS@#Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted, and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified PowerStats v1.2 software. The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction.@*RESULTS@#After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico.@*CONCLUSIONS@#There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system.

Sixty-six Biallelic Genetic Markers on Y chromosome by MALDI-TOF-MS / 法医学杂志

OBJECTIVES@#To analyse the genetic polymorphisms of 66 biallelic genetic markers on Y chromosome in Eastern Chinese Han population, and evaluate their values in forensic application.@*METHODS@#Genotyping of 66 biallelic genetic markers on Y chromosome was studied in 205 unrelated males of Eastern Chinese Han population by multiplex PCR combined matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The allele frequencies on the loci to be tested were calculated by direct counting method, and the gene diversity （GD） and haplotype diversity （HD） were calculated by corresponding formulas. The haplotypes of this system were tested by software Arlequin v3.5.2.2 and the comparison of population genetics were analyzed.@*RESULTS@#A total of 60 biallelic genetic markers on Y chromosome were polymorphic in males of Eastern Chinese Han population, and the ranges of GD were from 0.038 5 to 0.501 9. Eighty-five different haplotypes were observed and the HD was 0.970 3. The differences of partial SNP loci between the Han population of Eastern China and that of Xinjiang and Guangdong were statistically significance.@*CONCLUSIONS@#Sixty biallelic genetic markers and the detection system can complementally provide genetic information in kinship testing and individual identification. The MALDI-TOF-MS technology is able to type biallelic genetic markers.

Determination of Hair Shafts by InnoTyper? 21 Kit / 法医学杂志

Objective To explore the application value of InnoTyper? 21 kit in forensic practice. Methods Samples of hair shafts and saliva were collected from 8 unrelated individuals. Template DNA was ex-tracted by AutoMate ExpressTM forensic DNA automatic extraction system. DNA was amplified by Inno-Typer? 21 kit and AmpFeSTRTM IdentifilerTM Plus kit, respectively, and then the results were compared. Results After the amplification by InnoTyper ? 21 kit, complete specific genotyping could be detected from the saliva samples, and the peak value of genotyping profiles of hair shafts without sheath cells was 57-1219 RFU. Allelic gene deletion could be found sometimes. When amplified by AmpFeSTRTM IdentifilerTM Plus kit, complete specific genotyping could be detected from the saliva samples , and the specific fragment was not detected in hair shafts without sheath cells. Conclusion The InnoTyper? 21 kit has certain application value in the cases of hair shafts without sheath cells.

Genetic Polymorphism of 30 InDel Loci in Han Population from Jiangsu Province / 法医学杂志

Objective To investigate the genetic information of 30 insertion/deletion (InDel) loci in Han population from Jiangsu Province, and to explore the application values of Investigator? DIPplex kit for guiding the forensic analysis in Han population from Jiangsu Province. Methods The autosomal InDel loci of 305 unrelated healthy Han individuals from Jiangsu Province were genotyped and analysed by In-vestigator? DIPplex kit, and the allelic frequencies and forensic parameters of 30 InDel loci were statis-tically analysed. Results The distribution of 30 InDel loci in Han population from Jiangsu Province con-formed to Hardy-Weinberg equilibrium. The minor allele frequencies of 21 InDel loci were above 0.3. The polymorphism information content ranged from 0.089 to 0.375, while the discrimination power dis-tributed from 0.093 to 0.500. The paternity exclusion in duo cases and trio cases were 0.047-0.250 and 0.046-0.219, respectively. The linkage disequilibrium analysis of 30 InDel loci showed that all loci were independent from each other. The combined discrimination power was 1-7.369 ×10-8, whereas the com-bined mean exclusion chance in duo cases was 0.998933978, in trio cases was 0.997806392. The Fst values were all less than 0.06 except HLD118 and other four loci, which showed small differences be-tween groups. Conclusion The InDel loci of Investigator ? DIPplex kit can be used as complementary genetic markers for the cases associated with forensic genetics.

Association between the Alu Insertion/Deletion Polymorphism in the Tissue-Type Plasminogen Activator Gene and Mirtazapine Response in Koreans with Major Depression

OBJECTIVES: To determine the relationship between the Alu insertion/deletion (I/D) polymorphism in the tissue-type plasminogen activator (tPA) gene and the clinical outcome of mirtazapine treatment in Korean major depressive disorder (MDD) patients. METHODS: We enrolled 422 patients in this study. Symptoms were evaluated using the 21-item Hamilton Depression Rating (HAMD-21) Scale. After 1, 2, 4, and 8 weeks of mirtazapine treatment, the association between the Alu I/D polymorphism in the tPA gene and remission/response outcomes were evaluated. RESULTS: The proportion of I/I homozygotes in responders was higher than that in non-responders, whereas the proportion of D/D homozygotes in responders was lower than that in non-responders at 8 weeks of treatment (p = 0.032, OR = 1.57). The percentage decline of HAMD-21 scores in I allele carriers was larger than that of D/D homozygotes at 2 and 8 weeks of treatment (p = 0.035 and 0.007, respectively). I allele carriers were associated with remission at 8 weeks of treatment (p = 0.047, OR = 2.2). CONCLUSIONS: These results show that treatment response and remission to mirtazapine were associated with the Alu I/D polymorphism of the tPA gene. This suggests the Alu I/D polymorphism may be a potential genetic marker for the prediction of therapeutic response to mirtazapine treatment in patients with MDD.

Genetic diversity of Francisella tularensis subsp.holarctica in China / 中华流行病学杂志

Objective To explore the genetic relationship between the Chinese and the foreign species of Francisella tularensis.Methods Based on our own findings and from the literature,17 SNP,4 INDEL,and 12 VNTR were selected for phylogenetic analysis on 39 strains of F.tularensis,including 10 strains of Chinese F.tularensis and 29 strains of foreign F.tularensis that had been sequenced and published.SNP-INDEL and MLVA were used for the separation and combination.Results Data from the combined analysis indicated that 3 strains of Chinese F.tularensis with Japanese FSC022 were assigned to B5;3 strains,with Swedish FSC200 to B1;3 strains with American OSU18 to B2 and 1 strain with French FTNF002-00,German F92,and American OR96246 to B4,respectively.10 strains of Chinese F.tularensis were assigned to 4 clades and the result demonstrated a wide diversity of F.tularensis subsp.holarctica in China.Conclusion A set of simple and robust typing tools for F.tularensis subsp.holarctica were established in this study.Based on the results,F.tularensis subsp.holarctica might have had its origins in Asia.

Development of an 18 X-InDel Multiplex PCR System / 法医学杂志

Objective To investigate Insertion/Deletion (InDel) polymorphism on the X chromosome and to screen 18 InDel loci for the Chinese Han population as a forensic DNA typing system auxiliary. Meth-ods Eighteen X-InDel markers were selected using the Human Genome Browser and dbSNP database. Multiplex PCR primer pairs of selected X-InDel markers were designed using Primer 3 software and di-vided into 3 groups according to the amplified fragment length, labeled by FAM, HEX and TAMRA fluorescence dye, respectively. The population genetics research and comparative analysis of Chinese Han nationality and 4 main minorities, the Hui, Wei, Mongol, and Tibetan nationalities, were investigated with the system. Results A new multiplex genotyping system, named InDel X-18PLEX, was successfully developed and validated, consisted of 18 X-InDel markers on the X chromosome and 1 Amelogenin gen-der marker. No deviation from Hardy-Weinberg equilibrium expectations was detected in the distribution of genotypes in the 5 investigated ethnic groups. However, there was significant difference between their distributions. From the investigation of Han nationality, high female (0.999 999 4) and male (0.999 88) overall discrimination power values were obtained, as well as high overall mean exclusion chance values in trios (0.999 992) and in duos (0.99). Conclusion InDel X-18PLEX meets the requirements as a forensic DNA complementary kit, providing effective supplementary analytical tools for difficult cases.

Genetic polymorphism of 30 autosomal InDel loci in Chinese uygur population residing in Xinjiang / 解放军医学杂志

Objective To investigate the genetic data of 30 insertion deletion polymorphism (InDel) loci included in Investigator® DIPplex in Uygur population from Xinjiang, and evaluate its application in forensic medicine. Methods Allele frequencies, population genetics parameters of the 30 InDels were determined in 223 unrelated Uygur individuals with Investigator® DIPplex, and they were statistically analyzed and compared with available data of other populations of different races from different regions. Results After Bonferroni's correction, there were no significant departure from Hardy-Weinberg equilibrium or linkage disequilibrium between the loci. The average heterozygosity (Ho) was 0.468 6, the mean discrimination power (DP) was 0.609 5, and the total probability of discrimination power (TDP) reached 0.999 999 999 995. The cumulative probability of exclusion was 0.995 478 in trio cases (CPEtrio) and 0.972 007 in duo cases (CPEduo). The genetic distance between Uygur and Kazakh was closer than those between Uygur and other populations, such as African American. Conclusion Multiplex detection of the 30 InDel loci revealed a moderately high polymorphic genetic distribution in Chinese Uygur population residing in Xinjiang, demonstrating that the Investigator® DIPplex kit can be used as a supplementary tool for human identity tests, especially in challenging DNA cases.

Caracterización del sistema polimórfico inserción/deleción del gen de la enzima convertidora de angiotensina en una muestra poblacional cubana / Characterization of the angiotensin-converting enzyme gene insertion/deletion polymorphism in a sample of Cuban population

Introducción: El polimorfismo de inserción/deleción del gen de la enzima convertidora de angiotensina es uno de los marcadores de predisposición a enfermedades más estudiados del eje renina-angiotensina. Los hallazgos contradictorios de estudios de su asociación con diversas afecciones hacen necesario tipificar previamente las poblaciones de interés. Objetivos: Caracterizar el comportamiento de este polimorfismo en los principales grupos raciales cubanos: caucasoide y negroide. Métodos: Mediante un método basado en la reacción en cadena de la polimerasa se genotipificaron 93 muestras de sangre periférica obtenidas de adultos aparentemente sanos (49 caucasoides y 44 negroides). Se calcularon las frecuencias alélicas y genotípicas grupales. Resultados: Los genotipos ID y DD predominaron en los grupos caucasoide y negroide, respectivamente. La comparación de las frecuencias genotípicas entre ambos grupos evidenció diferencias significativas para el genotipo ID. El alelo D resultó el más frecuente en las 2 subpoblaciones estudiadas. Ambas se encuentran en equilibrio de Hardy-Weinberg para este polimorfismo. Las comparaciones de las distribuciones alélicas y genotípicas entre los grupos y poblaciones foráneas similares, no arrojaron diferencias significativas. Conclusiones: Los resultados permiten considerar los valores de frecuencias genotípicas y alélicas obtenidos como referencia para posteriores estudios de asociación con enfermedades en la población cubana e indican la necesidad de tener en cuenta las características particulares de este polimorfismo en cada grupo racial

Introduction: The insertion/deletion polymorphism of the angiotensin-converting enzyme is one of the more studied markers of predisposition to diseases of the renin-angiotensin axis. The contradictory findings from the studies of its association with diverse affection make necessary to typify previously the interesting population. Objectives: To characterize the behavior of this polymorphism in the main Cuban racial groups: Caucasoid and Negroid. Methods: By means of the polymerase chain reaction-based on method the genotyping was made in 93 samples of peripheral blood obtained from adults apparently healthy (49 Caucasoid and 44 Negroid). The allelic and genotypical-group frequencies were estimated. Results: The ID and DD genotypes were predominant in the Caucasoid and Negroid, respectively. The comparison of the genotype frequencies among both groups showed significant differences for the ID genotype. The D allele was more frequent in the two study subpopulations. Both are in balance of Hardy-Weinberg for this polymorphism. The comparisons of the allelic and genotypical distributions among similar foreign populations and groups had not significant differences. Conclusions: Results allows us to consider the values of genotypical and allelic frequencies obtained as reference for further studies on the association with diseases in Cuban population and suggest the need of to take into account the own features of this polymorphism in each racial group

14-bp Insertion/Deletion Polymorphism of the HLA-G Gene in Osteosarcoma Patients

BACKGROUND: The major histocompatibility complex class I, G (human leukocyte antigen-G [HLA-G]) gene plays a vital role in the suppression of immune responses. Recently, a number of studies have reported an association between HLA-G and diseases (pregnancy complications, organ transplantation, and tumors). Some of the studies have revealed that the 14-bp insertion/deletion polymorphism might be associated with various diseases. The aim of the present study was to explore a possible influence of the 14-bp insertion/deletion polymorphism on osteosarcoma. METHODS: Genomic DNA was extracted from 75 formalin-fixed, paraffin-embedded tumor tissues derived from patients with conventional osteosarcoma (OSA) and 183 peripheral blood samples of healthy controls. Fifty-eight cases were South Korean patients with OSA and 17 cases were Argentine patients with OSA. The HLA-G 14-bp insertion/deletion polymorphism at exon 8 of the HLA-G locus was analyzed by polymerase chain reaction. RESULTS: There was a significantly different distribution profile for the 14-bp genotypes between the Korean OSA and Korean control groups. Specifically, there were more heterozygote 210 bp/224 bp genotypes in the Korean OSA group when compared to the Korean control group (62.1% vs 40.4%, p=0.002). CONCLUSIONS: The results suggest that HLA-G heterozygote patients may be more susceptible to OSA in the Korean population.

DNA tests probe the genomic ancestry of Brazilians

We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European and African roots. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian and African females were unraveled. We next analyzed different types of biparental autosomal polymorphisms. Especially useful was a set of 40 insertion-deletion polymorphisms (indels) that when studied worldwide proved exquisitely sensitive in discriminating between Amerindians, Europeans and Sub-Saharan Africans. When applied to the study of Brazilians these markers confirmed extensive genomic admixture, but also demonstrated a strong imprint of the massive European immigration wave in the 19th and 20th centuries. The high individual ancestral variability observed suggests that each Brazilian has a singular proportion of Amerindian, European and African ancestries in his mosaic genome. In Brazil, one cannot predict the color of persons from their genomic ancestry nor the opposite. Brazilians should be assessed on a personal basis, as 190 million human beings, and not as members of color groups.