Analysis of clinical phenotype and genotype of unstable Hemoglobin Rush / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia.</p><p><b>METHODS</b>Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site ofγ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing.</p><p><b>RESULTS</b>All patients have presented hypochromic microcytic anemia and hemoglobin fraction with significant increased measurement (30.5%-59.2%) in the region of fetal hemoglobin during alkaline medium electrophoresis. DNA analysis suggested that all patients have carried mutations leading to the unstable hemoglobin Rush (HBB codon 101, GAG>CAG, Glu>Gln). Two of them were compound heterozygotes of Hb Rush and thalassemia mutations of -α,CD17 and Hb E, respectively. Hb Rush mutation was associated with various haplotypes of the β-globin gene cluster. No significant association was found between increased abnormal hemoglobin fraction in the region of Hb F and the polymorphism ofγ promoter or large deletion of the beta-globin gene cluster.</p><p><b>CONCLUSION</b>This study has confirmed the distribution of Hb Rush among various Chinese populations and is the third report of its kind. Hb Rush can result in increased measurement of hemoglobin fraction in the region of fetal hemoglobin (Hb F) during routine hemoglobin electrophoresis under alkaline condition. Hb Rush heterozygote alone can lead to hypochromic microcytic anemia and thalassemia-like phenotype. Prenatal diagnosis of Hb Rush is necessary for carriers.</p>

Impact of natural selection on the polymorphism of HLA-G 3'UTR among five ethnic Chinese populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the impact of natural selection and genetic background on the polymorphisms of HLA-G 3-untranslated regions (UTR) among five ethnic Chinese populations.</p><p><b>METHODS</b>PCR and DNA sequencing were used to determine the polymorphisms among 432 individuals from the five ethnic populations. Their genetic background was determined by genotyping of 10 short tandem repeats (STRs).</p><p><b>RESULTS</b>Eight variations were identified among Gelao, Mongolian and Kirgiz populations, while only 7 were found in Shui and Dai people. For all 3 southern populations (Gelao, Shui, and Dai), the observed heterozygosites (Ho) was higher than expected heterozygosities (He). But this was reversed for the 2 northern populations (Mongolian and Kirgiz). The Ho and He of the 10 neutral STRs were in random distribution. Ewens-Watterson testing based on haplotypes of the HLA-G 3'UTR has suggested that a natural selection had occurred in the region where Dai and Shui had inhabited, but not in the northern region where Mongolian and Kirgiz population inhabited. Polygenetic trees based on the HLA and STRs were also different.</p><p><b>CONCLUSION</b>The HLA-G 3'UTR of Dai and Shui people who lived in southern China may have subjected to a selection pressure. Based on current knowledge, this pressure may have been driven by a pathogenic selection.</p>

Association of three polymorphisms in the 3' untranslated region of the HLA-G gene with systemic lupus erythematosus in a population from Yunnan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of three polymorphisms (14-bpINS/DEL, +3035C/T and +3142C/G) in the 3' untranslated region (3'UTR) of HLA-G gene and systemic lupus erythematosus (SLE) in Yunnan.</p><p><b>METHODS</b>A case-control study has been carried out on 206 SLE patients and 212 healthy controls. Genotypes of 14-bpINS/DEL (rs1704), +3035C/T (rs17179108) and +3142C/G (rs1063320) loci of 3'UTR of the HLA-G gene were determined with DNA sequencing.</p><p><b>RESULTS</b>Allelic and genotypic frequencies of 14-bpINS/DEL and +3142C/G did not differ significantly between the two groups (P > 0.05). The frequencies of +3035T allele was significantly higher in the SLE group compared with the control group (P < 0.01, OR=1.604, 95% CI: 1.186-2.169). With a dominant inheritance model, the odd ratio of dominant genotype (CT+TT) was 2.004 (95% CI: 1.345-2.987, P=0.0006) in the SLE group.</p><p><b>CONCLUSION</b>The 14-bpINS/DEL and +3142C/G polymorphisms in the 3'UTR of the HLA-G gene are not associated with susceptibility to SLE in Yunnan, whilst the T allele of +3035C/T may be a risk factor for SLE.</p>

Association of EMILIN1 gene polymorphism with essential hypertension in Mongolian / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship between genetic polymorphisms of 3 single nucleotide polymorphisms (SNPs) in the elastin microfibril interfacer 1 (EMILIN1) gene and essential hypertension.</p><p><b>METHODS</b>A case-control study was conducted in which 201 hypertensive patients and 202 healthy controls in Mongolian population were enrolled, and the genotypes of rs3754734, rs2011616 and rs2304682 loci were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing techniques.</p><p><b>RESULTS</b>There were significant differences in the frequencies of alleles and genotypes for the rs2304682 between the hypertensives and normotensives in the population (P<0.05). The frequency of the G-G haplotype established by rs3754734 and rs2304682 was significantly higher in the hypertensive patients (P<0.05). The frequencies of alleles and genotypes for the rs2304682 also had significant differences between the group with high diastolic blood pressure and normal diasto lic blood pressure (P<0.05).There were no significant differences in the frequencies of alleles and genotypes for the 3 SNPs between the group with high systolic blood pressure and normal systolic blood pressure (P>0.05).</p><p><b>CONCLUSION</b>The rs2304682 locus in the EMILIN1 gene, as well as the haplotypes G-G constructed using rs3754734 and rs2304682, may associate with the susceptibility of essential hypertension in the Mongolian population. Also, rs2304682 may associate with the level of the diastolic blood pressure.</p>

The polymorphism of HLA-DRB1 and -DQB1 genes in Bai ethnic group in Yunnan province / 中国免疫学杂志

Objective:To investigate polymorphism of human leukocyte antigen (HLA)-DRB1 and -DQB1 genes in Bai ethnic group in Dali,Yunnan province.Methods:Polymerase chain reaction-sequence specific primers (PCR-SSP) were used to determine HLA-DRB1 and -DQB1 alleles in 124 unrelated healthy Bai ethnic individuals living in Eryuan County of the Dali Bai autonomous prefecture,Yunnan province.Results:Among all the 21 DRB1 alleles and 15 DQB1 alleles were identified,the predominant alleles were DRB1*1202(26.61%),DRB1*0901(13.89%) and DRB1*0803(9.92%) on DRB1 locus and DQB1*0301(31.45%),DQB1*0601(10.08%),DQB1*0401(8.06%)and DQB1*0502(8.06%)on DQB1 locus.The most common haplotypes were DRB1*1202-DQB1*0301(20.08%)and DRB1*0803-DQB1*0601(7.19%).Conclusion:The phylogenetic tree constructed according to the HLA-DRB1,-DQB1 allele frequencies of Bais with those of other 10 populations suggests that the Bai ethnic group belongs to the southern group of China,but it keeps genetic distance from others and the HLA genes exhibits a unique profile.This study would provide HLA polymorphism information of Bai for the future investigation on the disease related to the genetic polymorphism.

Immunogenicity in a Prime-boost Regimen of a Modified Vaccinia Virus Ankara (MVA) Vectored Experimental HIV-1 Clade C/B’ Vaccine / 中国生物工程杂志

Objective: To evaluate the immunogenicity of HIV-1 clade C/B’ vaccine based on modified vaccinia virus Ankara (MVA) vector in mice. Methods: Mice were inoculated with 3-dose HIV vaccine by intramuscular injection. Blood sample were collected every second week, and then the antibodies against HIV were detected. At week 6, mice were killed and cellular immune responses were examined by ELISPOT. Result: The number of spot forming cells in the 107 pfu/ml -dose group was more than those of 105 pfu/ml -dose and 106 pfu/ml -dose groups significantly. HIV specific antibodies emerged at week 2 and elevated rapidly at week 4 and week 6. The level of specific IgG in the 107 pfu/ml -dose group was more than those of 105 pfu/ml -dose and 106 pfu/ml -dose groups significantly. Conclusion: The ADMVA induces both humoral immunoresponse and cellular immune responses.

The Investigation of ABO,Rh Blood Group in Jirou and Bulang Nationality in Yunnan Province / 昆明医科大学学报

p.R-gene frequency in Jinuo nationality is higher than that in Bulang nationality.Conclusion Discrepancies exist in the antigen of blood types in different nationalities and each nationality has its own characteristics.

A study of the relationship between MICA gene and systemic lupus erythematosus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between major histocompatibility complex class I chain-related A(MICA) gene and systemic lupus erythematosus (SLE).</p><p><b>METHODS</b>The alleles and frequencies of exons 4 and 5 of MICA gene were determined in 70 cases of SLE and 152 controls of Yunnan Hans by STR genotyping, polymerase chain reaction, single strand conformation polymorphism and bidirection DNA sequencing.</p><p><b>RESULTS</b>Five alleles of exon 5 and 10 alleles of exon 4 were found in this study. The frequency of each allele was determined in patients and controls. There was no significant difference between the two groups in exons 4 and 5 of MICA gene.</p><p><b>CONCLUSION</b>Exons 4 and 5 of MICA were not related to SLE in Yunnan Hans.</p>

Distribution of CSF1PO TPOX and TH01 loci in five minority populations in Yunnan of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution of CSF1PO, TPOX and TH01 in 5 minority populations only resided in Yunnan province.</p><p><b>METHODS</b>DNA extraction from bloods and multiplex amplification of CSF1PO, TPOX and TH01 were carried out. The technique of denaturing polyacrylamide gel electrophoresis and silver staining method were used.</p><p><b>RESULTS</b>The data on the distribution of allele frequencies of 3 loci(CSF1PO, TPOX and TH01) in Achang Deang Bulang Pumi and Jino were collected and analyzed.</p><p><b>CONCLUSION</b>The allele distribution of the loci were in good agreement with the Hardy-Weinberg equibrium. A satisfactory result was obtained and some significant genetics differences were noticed in different populations.</p>

Association of HLA-A Alleles with Systemic Lupus Erythematosus / 中华皮肤科杂志

Objective To explore the potential association of HLA-A alleles and genetic susceptibility with systemic lupus erythematosus (SLE). Methods Polymerase chain reaction-sequence specific primer (PCR-SSP) was used to analyze the distribution of HLA-A alleles among 106 patients with systemic lupus erythematosus and 122 healthy persons. Results Nineteen out of twenty-four kinds of HLA-A alleles were found from the specimens, including 18 kinds in SLE specimens, and 15 kinds in control specimens. Among them, HLA-A*11 allele was positively associated with SLE (RR = 2.4380, EF = 0.1502, ?2 = 12.2440, P = 0.0005, Pc = 0.0095). For A*01 and A*24, although the P values were less than 0.05, the Pc values were more than 0.05 (0.9462 or 0.2356, respectively). Conclusions The results indicate that HLA-A*11 may be the susceptible allele or may be closely linked with the susceptible genes in Chinese SLE patients.