Association between polymorphisms of PSMB8, PSMB9 and TAP2 genes with rheumatoid arthritis in ethnic Han Chinese from Yunnan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between single nucleotide polymorphisms (SNPs) of PSMB8, PSMB9 and TAP2 genes and rheumatoid arthritis (RA) in ethnic Han Chinese from Yunnan.</p><p><b>METHODS</b>A case-control study was carried out using 177 RA patients and 288 healthy controls. Genotypes of rs2071543, rs55745125 and rs138635403 loci of PSMB8 gene, and rs17587 locus of PSMB9 gene were determined with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). And a polymerase chain reaction amplification refractory mutation system (ARMS-PCR) was used for typing rs2228396 locus of TAP2 gene. Genotypic and allelic frequencies were calculated. An Epi Info 7 software was used to calculate the Odds Ratio (OR) of above SNPs between the two groups.</p><p><b>RESULTS</b>Allelic and genotypic frequencies of rs138635403 and rs17587 loci have differed significantly between the two groups (P<0.05). The frequency of GG genotype for rs17587 locus was also higher in the RA group (0.672) compared with control group (0.524) (OR=1.862, 95%CI: 1.261-2.749).</p><p><b>CONCLUSION</b>Genetic polymorphisms of rs17587 appeared to be associated with RA in ethnic Han Chinese from Yunnan.</p>

Association of polymorphisms of PTPN22 and PADI4 genes with rheumatoid arthritis in Yunnan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between genetic polymorphisms of 7 SNPs in PTPN22 and PADI4 genes and susceptibility to rheumatoid arthritis in Yunnan.</p><p><b>METHODS</b>A case-control study was carried out on 192 patients of rheumatoid arthritis and 288 healthy controls. Genotypes of rs33996649 and 1858 loci within PTPN22 gene, and rs11203366 and rs874881 loci within PADI4 gene were determined with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genotypes of rs1635579, rs2428736 and rs2240340 in PADI4 gene were determined with pyrosequencing.</p><p><b>RESULTS</b>The frequencies of alleles and genotypes of rs2240340 locus in PADI4 gene showed a significant difference between rheumatoid arthritis and controls in Yunnan population (P U+003C 0.05).</p><p><b>CONCLUSION</b>Our results suggested that rs2240340 in PADI4 gene is associated with susceptibility to rheumatoid arthritis in Yunnan.</p>

Association between gene polymorphisms and myocardial infarction in Han Chinese of Yunnan province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine frequencies of genetic polymorphisms of coagulation factor VII (FVII), coagulation factor FXII (FXII), fibrinogen (FBG) and 9p21 in ethnic Han Chinese from Yunnan province, and to assess the association between such polymorphisms and onset of myocardial infarction (MI).</p><p><b>METHODS</b>One hundred and forty-two patients with MI and 192 healthy controls were analyzed. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and pyrosequencing were used to determine the genotypes of FVII, FXII, FBG and 9p21.</p><p><b>RESULTS</b>No significant difference was found in the frequencies of R353Q, 5'F7, C46T, -148C/T, rs1333049 and rs4977574 loci between the two groups (P> 0.05). However, the frequencies of AA of -455G/A, T and TT of rs1333040, T and TT of rs10116277 and G and GG of rs2383207 were significantly higher in MI group compared with the controls (P< 0.05), whilst the frequencies of CT of rs1333040 and GT of rs10116277 were significantly lower in MI group compared with the controls (P<0.05).</p><p><b>CONCLUSION</b>Polymorphisms of FVII, FXII, -148C/T of FBG and rs1333049 of 9p21 were not associated with myocardial infarction. Polymorphisms of -455G/A of FBG and rs1333040, rs10116277 and rs2383207 of 9p21 may be associated with MI in ethnic Han Chinese from Yunnan province.</p>

Detection and preliminary study of a family carrying a CCR5Δ32 deletional mutation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the frequencies of chemokine (C-C motif) receptor 5 gene (CCR5)Δ32 deletional mutation of in Han and Dai populations from Yunnan province. Immortalized cell lines were derived from a family carrying the CCR5Δ32 mutation.</p><p><b>METHODS</b>Blood samples of 346 Han and 355 Dai individuals were collected for genotyping. The coding regions of CCR5 gene were amplified with PCR followed by agarose gel electrophoresis. Suspected mutations were verified with DNA sequencing. Immortalized cell lines were constructed by using Epstain Barr virus and cyclosporine A. The difference between the cell lines and original blood samples was verified with PCR.</p><p><b>RESULTS</b>One ethnic Han individual was confirmed to be heterozygous for a deletional mutation by sequencing, which has led to discovery of a family with CCR5Δ32. Nine immortalized cell lines were established from this family, and no difference between the cell lines and original blood samples was detected by PCR.</p><p><b>CONCLUSION</b>Together with previous reports, this study has indicated a significant difference in CCR5Δ32 among different ethnic groups in China. Established immortalized cell lines can also provide material for future research.</p>

Association between Alu insertion polymorphisms and HLA class I alleles in Chinese Lisu and Nu ethnic populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the frequencies of HLA-Alu repeat polymorphisms (AluMICB, AluTF, AluHJ, AluHG and AluHF) in Chinese Lisu and Nu ethnic populations.</p><p><b>METHODS</b>The frequencies of HLA-Alu repeat polymorphisms in above populations were determined with polymerase chain reaction (PCR). The associations between HLA-Alu repeat polymorphisms and HLA-A, HLA-B and HLA-C alleles were also analyzed. Phylogenetic trees were constructed with genetic distance calculated from the frequencies of HLA-Alu repeat polymorphisms.</p><p><b>RESULTS</b>Frequencies of AluTF*2 and AluHF*2 were different between the two populations (P< 0.05), while those of other three insertions were similar. The strength of association between HLA-Alus and HLA alleles were different (P< 0.05) in the two populations. Although AluMICB*2 were associated with HLA-B*56:01 in both populations, the association was stronger in Lisu population (74.0%) but moderate in Nu population (30.7%). HLA-Alus were associated with particular HLA subtypes, e.g., AluHG*2 with certain HLA-A*02 subtypes. By phylogenetic analysis, Lisu and Nu were clustered together with southern Chinese and Thai populations.</p><p><b>CONCLUSION</b>The distribution of HLA-Alus and the strength of associations between HLA-Alus and HLA class I alleles have varied between the two populations. Study of this association may facilitate identification of origins, evolution, progenitor haplotypes and recombination within the HLA class I region.</p>

Association between single nucleotide polymorphisms of 5'-untranslated region of GPx4 gene and male infertility / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the association between the single nucleotide polymorphisms (SNPs) of the 5'-untranslated region (5'-UTR) of phospholipid hydroperoxide glutathione peroxidase (GPx4 or PHGPx) gene and oligo- or asthenozoospermic male infertility.</p><p><b>METHODS</b>The 5'-UTR region of the GPx4 gene was amplified from infertile men and controls using the polymerase chain reaction and was analyzed for polymorphisms by direct sequencing.</p><p><b>RESULTS</b>A total of 9 SNPs were present in the cohort, however there were no significant differences in these 9 SNPs between the case and control groups. According to the results of linkage disequilibrium analysis and haplotype construction, one haplotype (rs757229-rs757230-rs4588110-rs3746165-rs3746166: C-G-G-T-A) was present only in the control men, and significant difference was detected(P< 0.01).</p><p><b>CONCLUSION</b>The SNPs of 5'-UTR region of the GPx4 gene might not be associated with oligo- or asthenozoospermic male infertility. However, the haplotype (rs757229-rs757230-rs4588110- rs3746165-rs3746166: C-G-G-T-A) might be a protective haplotype.</p>

Distribution of HLA-C genes and HLA C-B, A-C-B haplotypes in Jinuo, Maonan and Wa ethnic populations in southwest China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution of human leukocyte antigen(HLA) class I genes and haplotypes in Jinuo, Maonan and Wa ethnic populations in southwest China.</p><p><b>METHODS</b>Polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) typing by Luminex was performed to genotype the HLA-C alleles in unrelated healthy individuals in the three populations. HLA C-B, A-C-B haplotypes were computed by combining the previous HLA-A and -B genotyping data using Pypop7.0 software.</p><p><b>RESULTS</b>Eighteen HLA-C genes were identified in the three populations, with 17, 13 and 15 HLA-C genes in Jinuo, Maonan and Wa populations respectively. The alleles with frequency of more than 10% from high to low were C*08:01, C*01:02, C*03:04 and C*07:02 in the Jinuo, C*03:04, C*01:02, C*07:02 and C*08:01 in the Maonan, and C*12:03, C*08:01, C*07:02 and C*04:01 in the Wa. The predominant HLA A-C-B haplotypes were A*02:07-C*01:02-B*46:01, A*11:01-C*08:01-B*15:02 and A*11:01-C*03:04-B*13:01 in the Jinuo, A*11:01-C*03:04-B*13:01, A*02:07-C*01:02-B*46:01, A*11:01-C*08:01-B*15:02 and A*02:03-C*07:02-B*38:02 in the Maonan, and A*11:01-C*08:01-B*15:02, A*11:01-C*12:03-B*15:32 and A*11:01-C*04:01-B*35:01 in the Wa, respectively.</p><p><b>CONCLUSION</b>There were different characteristics in the distributions of HLA-C genes and HLA C-B, A-C-B haplotypes in the Jinuo, Maonan and Wa populations. However, haplotypes C*08:01-B*15:02 and A*11:01-C*08:01-B*15:02 with high frequencies were common in the three populations, which might be the common ancient haplotypes of southern Chinese population. The study of HLA genes and haplotypes in these populations may be of significance in the study of population genetics, transplantation and disease association.</p>

Association between diversity of hypoxia at different altitude and the polymorphism of EPAS1 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the selection effect of endothelial PAS domain protein 1 (EPAS1) gene induced by high altitude hypoxia environment.</p><p><b>METHODS</b>Fourteen single nucleotide polymorphism sites (SNPs) of the EPAS1 gene were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) in three Tibetan groups (58 samples from Tibetan living in an altitude of about 3700 meters above sea level, 47 from Qinghai province, about 3100 meters above sea level, 43 from Yunnan province, about 2500 meters above sea level), and Han of Shandong (47 samples, about 50 meters above sea level).</p><p><b>RESULTS</b>There were significant differences of most SNP allelic, genotypic and haplotypic frequencies when comparing Han of Shandong, Tibetan of Yunnan with Tibetan of Tibetan and Qinghai. But no difference between Han of Shandong and Tibetan of Yunnan was found.</p><p><b>CONCLUSION</b>The EPAS1 gene might be under hypoxic selection induced by high altitude.</p>

Study of nine single nucleotide polymorphism loci of human HIF1A gene in three Tibetan groups / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the effect of hypoxia environment induced by altitude on hypoxia inducible factor 1α (HIF1A) gene.</p><p><b>METHODS</b>Nine single nucleotide polymorphism (SNP) loci of the HIF1A gene from three Tibetan groups (Tibet, Qinghai Province and Yunnan Province) were genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) method.</p><p><b>RESULTS</b>For non-synonymous mutation SNP site, there was no significant difference among the three Tibetan groups, except for SNP rs11549465 between Tibet Tibetan and Yunnan Tibetan, as well as between Qinghai Tibetan and Yunnan Tibetan. Frequencies of genotypes and alleles in rs4899056, rs1957757, rs10873142 and rs3783752 had significant differences between Tibet Tibetan and Yunnan Tibetan, and between Qinghai Tibetan and Yunnan Tibetan (all P<0.05). We also observed that the difference was negatively correlated with the altitude.</p><p><b>CONCLUSION</b>The results suggested that the HIF1A gene might be under hypoxic selection induced by high altitude in the three groups.</p>

Establishment of immortalized cell lines and genetic stability evaluation for a family with spinocerebellar ataxia type 2 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Immortalized cell lines of spinocerebellar ataxia type 2 (SCA2) with Parkinson disease symptoms were established in order to provide experimental material for future study.</p><p><b>METHODS</b>The immortalized cell lines were constructed by using Epstein Barr virus and cyclosporine A. Microsatellite markers were detected to see whether there is any change between the cell lines and the original blood samples, and the genetic stability of the cell lines were evaluated.</p><p><b>RESULTS</b>Twenty-five immortalized cell lines were established successfully from the family and the microsatellite markers were unchanged.</p><p><b>CONCLUSION</b>The karyotypes of the immortal cell lines were normal and the cell lines were genetically stable.</p>

RANTES In1.1C allele polymorphisms in 13 Chinese ethnic populations / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The In1.1C single nucleotide polymorphism (SNP) allele results in reduced RANTES transcription, which is associated with increased frequency of HIV-1 infection, and rapid progression to AIDS among HIV-1-infected individuals. This study aimed to study the mutant frequency and polymorphism of RANTES in Chinese populations.</p><p><b>METHODS</b>The genotypes of RANTES In1.1C were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with the digestion of restriction endonuclease Mbo II.</p><p><b>RESULTS</b>Of the 617 individuals, 290 (47%) were carriers of the RANTES In1.1C allele, 52 of whom were homozygotes, whereas 238 were heterozygotes. The frequency of the RANTES In1.1C allele in those tested individuals was 0.2840. The frequencies of In1.1C allele varied from 0.07 - 0.27 in most of the populations in South-west China except for the two Lisu populations, while the frequencies of In1.1C spans from 0.35 to 0.45 in North-west China. The prevalence of the allele varied substantially between the South-west groups and North-west groups (chi(2) = 7.838, P = 0.006).</p><p><b>CONCLUSIONS</b>The prevalence of the RANTES In1.1C allele varies substantially between the South-west groups and North-west groups. There is no significant difference between the groups with different languages, which suggests that language relationship is not consistent with the genetic relationship. These results have important implications for the design, assessment, and implementation of HIV-1 vaccines.</p>

Study on the genetic stability of immortalized cell line of lymphocyte cell transformed by EB virus after long subculture process / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the genetic stability of an immortalized cell line transformed by Epstein-Barr virus (EBV) after long subculture process.</p><p><b>METHODS</b>In the present study, the genetic stability including chromosome diploidy, karyotypes and microsatellite DNA were evaluated with chromosome banding techniques and microsatellite DNA detection. The telomerase activity of the immortalized cell line was detected by using the telomerase assay kit.</p><p><b>RESULTS</b>From passage 1 to 30, there were no change of the diploidy, karyotypes of chromosome and microsatellite DNA, and the telomerase activity is negative.</p><p><b>CONCLUSION</b>This study indicates that the immortalized cell line remains stable genetically within limited passages.</p>

Comparative analysis of the complete mitochondrial genome between Tibetan and Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To construct the haplogroup and perform an analysis of mitochondrial whole-genome sequence in Tibetan and Han Chinese. Variations of nucleotide of mitochondrial DNA (mtDNA) were identified and compared between the Tibetan and Han population.</p><p><b>METHODS</b>The mtDNA whole sequences of 40 Tibetan and 50 Han individuals were sequenced by an Applied Biosystems 3730 DNA automatic sequencer. The sequences were assembled using software phredPhrap16.0, and all assembled sequences were manually verified according to the criterion of rCRS (revised Cambridge Reference Sequence). The haplogroups of mtDNA were constructed using phylogenetic analysis according to the criteria of MITOMAP by Network method. The data were elucidated by integrated methods.</p><p><b>RESULTS</b>Authors' results showed that all the pooled 90 subjects belonged to the Macrohaplogroup M and N, and were classified into 13 haplogroups. No differences were observed among the haplogroups of the two populations except for M9 haplogroup. A total of 21 variants were detected by comparing the mtDNA whole sequences between Tibetan and Han population; of those, 5 variants have not been reported before. In addition, we constructed the haplotypes of 5 variants harboring the D-loop region, and founded prominent difference in both supertype 1 and supertype 2 between Tibetan and Han population.</p><p><b>CONCLUSION</b>The phylogenetic analysis indicates that the Tibetan and Han ethnic groups shared close maternal relationship in origin. The biological implication of the significant variants is worth elucidating; whether they are the results of adaptive selection or neutral selection or pathological variations need to be further studied.</p>

Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies / 中华医学遗传学杂志

Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes. These tag SNPs can be potentially useful for construction of haplotype and haplotype block, and association studies in complex diseases. There are two general classes of methods to construct haplotype and haplotype blocks based on genotypes on large pedigrees and statistical algorithms respectively. The author evaluate several construction methods to assess the power of different association tests with a variety of disease models and block-partitioning criteria. The advantages, limitations and applications of each method and the application in the association studies are discussed equitably. With the completion of the HapMap and development of statistical algorithms for addressing haplotype reconstruction, ideas of construction of haplotype based on combination of mathematics, physics, and computer science etc will have profound impacts on population genetics, location and cloning for susceptible genes in complex diseases, and related domain with life science etc.

Polymorphism of DYS287 on Y chromosome in 28 ethnic populations of China / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the polymorphism of DYS287 among 28 ethnic populations in 9 provinces of China.</p><p><b>METHOD</b>YAP element was detected by Touchdown PCR amplification and 2% agarose gel electrophoresis.</p><p><b>RESULTS</b>YAP+ frequencies in these ethnic populations were as follows: Zang 36.7%, Tu 23.8%, Yi 18.4%, Pumi 11.3%, Tajik 7.4%, Bai 6.7%, Jino 5.1%, Shandong Han 4%, Mulao 2.7%, and Maonan 1.3%. The rest ethnic populations in our study, including Gansu Han, Yunnan Han, Zhuangzu, Daizu, Lizu, Nuzu, Lisu, Naxi, Lahu, Dulong, Hani, Shezu, Weiwuer, Sala, Kerkizi, Dongxiang, Vazu, and Korea didn't carry YAP + element.</p><p><b>CONCLUSIONS</b>Zangzu, Tuzu, Yizu, Pumi, Jino, and Baizu, which belong to Sino-Tibetan language family, carry a high YAP + frequency. Sala, Tuzu, and Tajik, regarded as Central Asia by origin in history and linguistics, also have a high YAP + frequency. Mulao and Maonan, which origin from "Baiyue" ancient ethnic groups, also have a considerable YAP + frequency.</p>

Collection of a Chinese pedigree with Parkinson's disease and linkage analysis of nine susceptibility genes / 中国医学科学院学报

<p><b>OBJECTIVE</b>To analyze the susceptibility genes of a Parkinson's Disease (PD) family.</p><p><b>METHODS</b>The blood samples of a four-generation classic idiopathic PD family were collected. Two-point LOD score method was applied to analyze the linkage disequilibrium between the disease locus and microsatellite markers.</p><p><b>RESULTS</b>We studied 13 markers near the 9 genes that had been reported to be associated with PD. No obvious evidence showed that the selected markers had anything correlation with PD locus.</p><p><b>CONCLUSION</b>These 9 genes are not the susceptibility genes of PD in this family.</p>

Gene frequencies and haplotypes of nine Y-short tandem repeat loci in four minority populations of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphism of nine Y-short tandem repeat loci in 117 male individuals from four minority populations of China, and to obtain the polymorphism information in these populations.</p><p><b>METHODS</b>Nine loci in all samples were amplified by PCR. Products were electrophoresed on ABI PRISM 377 DNA sequencer. The electrophoresis result was analyzed by Genotyper 2.0 software. Allele frequencies, diversities and genetic distance were calculated.</p><p><b>RESULTS</b>Forty-three alleles and 32 haplotypes were found in Manchu population, 43 alleles and 33 haplotypes in Uygur population, 31 alleles and 15 haplotypes in Kirgiz population and 34 alleles and 23 haplotypes in Zhuang population. The closest genetic distance is 0.02530 between Manchu and Uygur, the highest genetic distance is 0.34590 between Kirgiz and Zhuang.</p><p><b>CONCLUSION</b>High haplotype diversities were found in four populations. The study of genetic diversity among different populations is useful in research of their origins, migrations and their relationships.</p>

Immunogenecity of combined hepatitis A and B vaccine / 中国医学科学院学报

<p><b>OBJECTIVE</b>To observe the immunogenicity of combined hepatitis A and B vaccine (HAB).</p><p><b>METHODS</b>The combined HAB vaccine was prepared and different concentrations of HAB were administered on mice in week 0, 4 and 24, and then we tested the antibodies to both hepatitis A virus and B virus. After the first injection, we tested the hepatitis A antigen-induced and hepatitis B surface antigen-induced stimulation indices in spleen monocyte as well as changes of CD4+ and CD8+ cell numbers.</p><p><b>RESULTS</b>The serum antibody positive rates were 100% in all three groups, and the antibody induced by HAB vaccine were earlier than by monovalent vaccine. The hepatitis A antibody and hepatitis B surface antibody titers after the combined vaccine inoculation were not significantly higher than those after the monovalent vaccine inoculation. On the other hand, after the first injection of the combined vaccine, the hepatitis A antigen-induced and hepatitis B surface antigen-induced stimulation indices in spleen monocyte were detected. The numbers of CD4+ and CD8+ cells increased.</p><p><b>CONCLUSIONS</b>HAB vaccine has reliable immunogenicity.</p>

Genetic analysis of 17 biallelic markers on Y chromosome in 3 Chinese ethnic group populations / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the genetic polymorphism of Y chromosome in different Chinese ethnic group populations.</p><p><b>METHODS</b>Genotypes of 17 biallelic markers located in the nonrecombining portion of the Y chromosome in 76 men from 3 Chinese ethnic group populations (Han in Shandong, Bai in Yunnan, and Tu in Qinghai) were examined with polymerase chain reaction (PCR) and allelic-specific PCR (ASPCR). Their haplotypes made of these 17 binary markers were constructed. The principle component (PC) analysis was conducted based on the haplotype frequency distribution among these 3 and other 15 published Chinese ethnic group populations.</p><p><b>RESULTS</b>The diversities of M50, M110, M103, M88, M3, and M7 were not found in these 3 populations. The frequencies of YAP+ were 23.8%, 6.7%, and 4% respectively in Tu, Bai, and Shandong Han. Eleven haplotypes were found in 3 populations--7 haplotypes (H1, H3, H5, H6, H8, H9, and H11) in Shandong Han (Han.SD), 8 haplotypes (H1, H2, H3, H5, H6, H8, H11, and H16) in Tu, and 9 haplotypes (H1, H3, H4, H5, H6, H8, H9, H11, and H13) in Bai. The predominant haplotypes were H1, H3, H5, H6, H8, and H11. According to PC analysis, Bai was close to Northern Han; Shandong Han, Southern Han (Han.S), Bai and Yunnan Tibetan clustered together; and Tu was close to Yi, Hui and Manchurian.</p><p><b>CONCLUSIONS</b>Shandong Han may have had genetic exchanges with southern populations in China. It has been confirmed that some gene components of Han had flowed into Bai's gene pool. Gene flowed from Central Asia had impacted Chinese western populations.</p>

Genotyping of HLA-DRB1 by PCR-SSP in Yunnan Lahu ethnic groups / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate polymorphism of HLA-DRB1 in Chinese Lahu population in Yunnan.</p><p><b>METHODS</b>Polymerase chain reaction-sequence specific primers (PCR-SSP) were used to determine HLA-DRB1 genotypes of 110 unrelated healthy Lahu minority people of Yunnan Province.</p><p><b>RESULTS</b>Sixteen alleles of DRB1 were detected in this study. The results of test showed that the genotype distributions observed were corresponded with the Hardy-Weinberg equilibrium.</p><p><b>CONCLUSION</b>This study has obtained a more comprehensive and accurate data set of the normal allele frequencies of HLA-DRB1 in Chinese Lahu population in Yunnan Province, which may be of significance in the studies on population genetics and disease association.</p>