Human leukocyte antigen Class II alleles associated with acral lentiginous melanoma in Mexican Mestizo patients: A case-control study

Background: Melanoma is an aggressive cutaneous cancer. Acral lentiginous melanoma is a melanoma subtype arising on palms, soles, and nail-units. The incidence, prevalence and prognosis differ among populations. The link between expression of major histocompatibility complex Class II alleles and melanoma progression is known. However, available studies report variable results regarding the association of melanoma with specific HLA Class II loci. Aims: The aim of the study was to determine HLA Class II allele frequencies in acral lentiginous melanoma patients and healthy Mexican Mestizo individuals. Methods: Eighteen patients with acral lentiginous melanoma and 99 healthy controls were recruited. HLA Class II typing was performed based on the sequence-specific oligonucleotide method. Results: Three alleles were associated with increased susceptibility to develop acral lentiginous melanoma, namely: HLA-DRB1*13:01; pC = 0.02, odds ratio = 6.1, IC95% = 1.4–25.5, HLA-DQA1*01:03; pC = 0.001, odds ratio = 9.3, IC95% = 2.7–31.3 and HLA-DQB1*02:02; pC = 0.01, odds ratio = 3.7, IC95% = 1.4–10.3. Limitations: The small sample size was a major limitation, although it included all acral lentiginous melanoma patients seen at the dermatology department of Dr. Manuel Gea González General Hospital during the study period. Conclusion: HLA-DRB1*13:01, HLA-DQB1*02:02 and HLA-DQA*01:03 alleles are associated with increased susceptibility to develop acral lentiginous melanoma in Mexican Mestizo patients.

Study on the polymorphism of HLA-DQA1 gene in hepatitis B patients of Uygur and Han nationality lived in Xinjiang region / 重庆医学

Objective To investigate the relation between the human leucocytes antigen-DQA1(HLA-DQA1) alleles poly-morphism and the Uygur Han nationality hepatitis B patients in Xinjiang and the genetic susceptibility healthy controls ,which is provide some important clues to seek the susceptible genes and disease-resistant genes of HBV infection for Uygur and Han nation-ality hepatitis B patients .Methods HLA-DQAl alleles of 182 cases of the Hepatitis B patients and 163 people were compared with HBV DNA and ALT level .HLA-DQA1 * 0102 ,-DQA1 * 0104 ,-DQA1 * 0201 ,-DQA1 * 0301 ,-DQA1 * 0302 ,-DQA1 * 0501 genes frequency are detected with PCR-SSP .Results Compared the Uygur hepatitis B patients ALT abnormal and HBV DNA high copy quantity group with healthy controls group in allele′s frequency analysis found that HLA-DQA1 * 0301 ,-DQA1 * 0501 genes had statistic significance(P< 0 .05) .Compared the Han nationality hepatitis B patients ALT abnormal and HBV DNA high copy quanti-ty group with healthy controls group in allele′s frequency analysis ,It was found that HLA-DQA1 * 0102 ,-DQA1 * 0201 ,-DQA1 *0301 genes difference had statistic significance(P < 0 .05) .HLA-DQA1 * 0102 had the statistic significance between high and low copy quantity groups(P< 0 .05) .Compared the Han nationality hepatitis B patients ALT normal and low copy quantity group with healthy controls group in allele′s frequency analysis ,It was found that HLA-DQA1 * 0201 genes had statistic significance(P <0 .05) .HLA-DQA1 * 0102 ,-DQA1 * 0301 had statistic significance between the Han and Uygur nationality for HBV patients(P<0 .05) ;HLA-DQA1 * 0201 ,-DQA1 * 0501 had statistic significance between the Han and Uygur nationality for healthy people(P<0 .05) .Conclusion HLA-DQA1 * 0501 is the protected gene of Uygur hepatitis B patients ;-DQA1 * 0301 is the susceptibility gene .The Han nationality hepatitis B patients group HLA-DQA1 * 0102 ,-DQA1 * 0301 ,-DQA1 * 0302 is the susceptibility genes and -DQA1 * 0201 is the Antagonism gene .

A study of the frequencies of HLA-DQA1 alleles and their clinical application values in the donor-recipient HLA-10/10 matched hematopoietic stem cell transplantation / 中华微生物学和免疫学杂志

Objective To analyze the frequencies of HLA-DQA1 alleles and their clinical values in the donor-recipient HLA-A,-B,-C,-DRB1,-DQB1 (10/10) matched hematopoietic stem cell transplantation (HSCT).Methods This study recruited 127 patients who received allogeneic HSCT and 127 unrelated donors.High-resolution (High Res) DNA typing for HLA-DQA1 alleles were performed on the 254 subjects by using sequence specific oligonucleotide probes (SSOP) and high resolution of sequence specific primer(High Res SSP).Results The DQA1 allele genotypes of 36 pairs of donor-recipient were directly identified by using SSOP.The ambiguous DQA1 allele genotypes of the rest 91 pairs were identified by using High Res SSP.Among the 127 pairs of donor-recipient,5 pairs were HLA-DQA1 alleles mismatched,while the others were all matched.No significant differences in the distribution of HLA-DQA1 alleles were observed between the donors and the recipients.Sixteen HLA-DQA1 alleles were detected in the 127 donors,which were DQA1 * 02 ∶ 01 (19.3％),DQA1* 01 ∶ 02(19.3％),DQA1 * 03 ∶ 02/03 (17.0％),DQA1 *01∶03 (9.8％),DQA1*06∶01(9.1％),DQA1*05∶ 01(7.1％),DQA1*05∶05(5.9％),DQA1*03∶01 (4.7％),DQA1*01 ∶04(2.4％),DQA1*01∶05(2.0％),DQA1*01∶01(1.2％),DQA1*05 ∶ 03(0.8％),DQA1 *05 ∶ 08(0.8％),DQA1*04 ∶ 01(0.4％),DQA1*05 ∶ 06(0.4％) from high to low frequency.Moreover,a new allele was detected in the patients.The haplotypes' frequencies and linkage disequilibrium(LD) analysis of HLA-DQA1 and HLA-DQB1 showed that the most common haplotype was DQA1 *02 ∶ 01-DQB1 *02 ∶ 02(16.1％),followed by DQA1 *03 ∶ 02/03-DQB1 *03 ∶ 03 (11.8％)and DQA1 *01 ∶ 03-DQB1 * 06 ∶ 01 (9.1％).Stronger LD were observed between DQA1 * 02 ∶ 01 and DQB1*02 ∶ 02,DQA1 *03 ∶ 02 and DQB1*03 ∶ 03,DQA1 *01 ∶ 03 and DQB1*06 ∶ 01,HLA-DQA1*06∶01 andDQB1*03 ∶ 01,DQA1*05 ∶ 01 and DQB1*02 ∶ 02(P＜0.001).Conclusion There was strong linkage disequilibrium between HLA-DQA1 and HLA-DQB1 genes.The polymorphism of HLA-DQA1 gene was less than that of HLA-DQB1 gene.No more guidance was provided to donor selection in unrelated donor-recipient HLA matched HSCT by adding HLA-DQA1 genotyping,but it might have clinical application values in HSCT with HLA Ⅱ locus mismatched donor and recipient.

Research of HLA II Class DRB1, DQA1, DQB1 Genetic Markers in Patients with HIV Infection and AIDS.

Aims: To find out the most frequent associations of the HLA II class loci DRB1*, DQA1*, DQB1* with the HIV/AIDS infection. Place and Duration of Study: The study took place in The Laboratory of Clinical Immunology and Immunogenetics (LCII) of Riga Stradiņš University (RSU), Riga, Latvia, Riga Eastern Clinical University Hospital, “Infectology Centre of Latvia”, between May 1991 and December 2004. Original Research Article British Journal of Medicine & Medical Research, 4(17): 4482-4500, 2014 4483 Methodology: We analysed the medical documentation of 2500 patients and included 1180 (888 men, 292 women, 185 of them in AIDS phase) HIV infected patients. Genomic DNA was extracted from the blood with phenol-chloroform extraction method. Lowresolution HLA typing for HLA- DRB1*; DQB1*; DQA1* was performed by polymerise chain reaction (PCR) with amplification with sequence-specific primers (SSP). PCR products were separated on 3% agarose, the amplified bands were visualized, and the HLA-DRB1; DQA1; DQB1 type was deduced. Results: Genetic markers of immunologic alleles upon development of HIV infection – HLA-DRB1*03(17:01); 05(11:01); 07:01; HLA-DQA1*01:01; 02:01; 03:01; 06:01; HLADQB1* 03:02; 05:01; 03:03; 03:04, as well as resistance markers connected with slow development of HIV infection – HLA-DRB1*01:01; 04:01; 06(13:01); HLA-DQA1*01:03; 04:01; 05:01; HLA-DQB1*03:01; 03:03; 04:01-2; 06:01; 06:02-8 are located in different groups of patients. High risk markers in case of HIV infection development belonging to the following groups of alleles: HLA-DRB1*03(17:01), DRB1*05(11:01), DQA1*01:01; 03:01 un DQB1*05:01; 03:02, as well as three-loci haplotypes HLA-DRB1*03(17:01)/ DQB1*05:01/ DQA1*01:01; HLA-DRB1*05(11:01)/DQB1*03:01/ DQA1 *05:01; DRB1*01:01/DQB1*03:02/ DQA1*03:01 and DRB1*01:01/DQB1*05:01/DQA1*01:01 are determined. Resistance to HIV infection development forms in the following groups of alleles: HLA-DRB1*01:01; 06(13:01), HLA-DQB1* 03:01; 06:02-8; HLA-DQA1*01:02; 01:03, as well as in haplotypes HLA- DRB1*01:01/DQB1*06:02-8/DQA1*01:02;HLADRB1* 06(13:01)/DQB1*06:02-8/DQA1*01:02; HLADRB1* 01:01/DQB1*03:01/DQA1*01:02; and HLA-DRB1*06(13:01)/DQB1*06:02-8/ DQA1*01:02 in different groups of HIV/AIDS patients. Conclusion: The prevalence of genes DRB1; DQA1; DQB1 and DRB1-DQA-DQB1 combinations in the five groups of HIV infected patients have been established. Comparative analysis was performed also in the group of healthy donors (control group). The role of the main histocompatibility complex has been established, it enables marker functions and that can be used in the additional prognostic diagnostics in case of HIV infection. The obtained results testify that upon the identification of HIV genes it is possible to understand the molecular mechanisms in case of progression of AIDS syndrome complex; this possibly can be beneficial for the determination of the clinical results of infected patients.

Helicobacter pylori infection and human leukocyte antigen-DQA1 allelic frequency in patients with recurrent abdominal pain / 中华临床感染病杂志

Objective To investigate Helicobacter pylori(Hp)infection and HLA-DQA1 allelic frequency in family members of children with recurrent abdominal pain.Methods One hundred and eighteen family members of 20 children with recurrent abdominal pain were divided into two groups:with and without recurrent abdominal pain.Serum Hp antibody was tested by dot immunogold filtration assay and immunophenotyping was determined by Western blot(immunobiot)technique.Polymerase chain reactionsequence specific primers(PCR-SSP)technique Was applied to identify HLA-DQAi allelic frequencies.Hardy-Weinberg equilibrium test was performed(P>0.05),and Chi-square test was used to compare the frequency of HLA-DQA1 alleles between the groups.Results The Hp seropositive rate in 118 members Was 100%and the Hp immunophenotyping was 96.6%.The prevalence of Hp Ⅰ and Ⅱ type was 55.1%(65/118)and41.5%(49/118).HLA-DQA1*0302 allelic frequency Was significantly higher in subjects with recurrent abdominal pain than that in subjects without one(23%vs.2%,X2=13.277,P=0.000).Conclusion There is immunogenetic difference between familial members with and without recurrent abdominal pain infected by Hp,and HLA-DQA1*0302 may be the associated gene contributing to different clinical outcomes after Hp infections.

Hereditary susceptibility of HLA-Ⅱ class genes in febrile convulsions / 中国基层医药

0);while the gene frequency of HLA-DQA1 * 0401 allele in children FC was 0.9 %,which was lower than that of the control group(8.5 %,P = 0.0350).Conclusion HLA-DQA1 0101 allele maybe a susceptible gene and HLA-DQA1 * 0401 allele maybe a protective gene of FC in children FC in Han nationality in Baotou.There was no correlation between HLA-DQB1 and FC.

Distribution of HLA-DQA1*01, *03, *05 and DQB1*02 Subtypes and the Associated Haplotypes in the Korean Population

BACKGROUND: As all HLA class II genes, the DQ genes show their polymorphic variation mainly in the second exon, which encodes the first extracellular domain of the molecule. PCR-SSOP (Polymerase chain reaction-Sequence specific oligonucleotide probe) techniques were frequently used for HLA-DQA1 and DQB1 typing but certain alleles, DQA1*0101/0104/0105, *0302/0303, *0501/0505 and DQB1*0201/*0202, which differ from each other in segment other than exon 2, could not be unequivocally assigned. METHODS: To overcome this problem, we applied additional PCR-SSP (PCR-Sequence specific primer) method to analyze DQA1 exons 1, 3 and 4 and DQB1 exon 3. And we investigated the distributions and haplotypes of HLA-DRB1, DQA1 and DQB1 alleles in 406 unrelated Korean healthy individuals. RESULTS: Using this method the indistinguishable alleles of DQA1 and DQB1 in PCR-SSOP were typed definitively. We also found several important associations between DQA1 and DQB1 alleles in the Korean population; DQA1*0101-DQB1*0501, DQA1*0104-DQB1*0502 or -*0503, DQA1 *0105-DQB1*0501, DQA1*0302-DQB1*0303, DQA1*0303-DQB1*0401 or -*0402, DQA1 *0501-DQB1*0201, DQA1*0505-DQB1*0301, and DQA1*0201-DQB1*0202. The haplotypes of DRB1-DQA1-DQB1 associated with DQA1*01, *03, *05, and DQB1*02 subtypes were investigated. Several haplotypes associated with these alleles were observed in the Korean population. CONCLUSION: Our results can be helpful to find potential unrelated donors for bone marrow registries and study the HLA-associated disease and anthropology at high-resolution allelic level.

Analysis of HLA - DQA1 alleles of jing nationality in central Vietnamese

With the technique of Polymerase Chain Reaction Sequence Specific Primers (PCR-SSP), the diversity of the distribution of allele HLA-DQA1 was investigated on 214 healthy young men and adolescents of 14 and gender ratio 1:1 (male/female). Results showed that 10 alleles HLA-DQA1 were detected, among them, DQA1*0104 is the most common with a frequency of 25.8% and the least common is DQA1*0601 - 1%, all the rest are less than 10%. The diversity of allele HLA-DQA1 in Kinh people in Central Vietnam expressed its ethnical specificity differenciated with other ethmic groups in China and Thailand.

HLA-DQA1, HLA-DQB1, and HLA-DRB1 Allele Frequency in Korean Patients with Schizophrenia / 신경정신의학

OBJECTIVE: The aim of this study was to investigate the correlation between HLA-DQA1, HLA-DQB1 and HLA-DRB1 alleles and disease susceptibility in Korean schizophrenic patients. METHODS: HLA-DQA1, HLA-DQB1, and HLA-DRB1 allele typing were performed using polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSOP) method in 128 Korean schizophrenic patients diagnosed by DSM-IV criteria, who were not blood-related, and 160 normal blood bank donors. RESULTS: The HLA-DQB1*04 allele frequency was 14.6% in schizophrenic patients, which was significantly higher than that of normal controls which was 8.2% (p=0.028). HLA-DRB1*14 allele frequency was 11.8% in patients, which was also more frequent than that of normal controls which was 5.5% (p=0.01). HLA-DRB*15 allele frequency was 2.0% in patients, which was significantly lower than that of normal controls which was 7.1% (p=0.007) and HLA-DRB*16 allele frequency was 1.6% in patients, which was also lower than that of normal controls which was 4.8% (p=0.043). CONCLUSIONS: Schizophrenia in Korea had positive correlation with HLA-DQB1*04 and HLA-DRB1*14, and negative correlation with HLA-DRB1*15 and HLA-DRB1*16. These findings support the association of the HLA-DQB1 and HLA-DRB1 with schizophrenia in Korean population, which was different from other study results in other different ethnic groups.

Distributions of Alleles and Haplotypes of HLA - DRB1, - DQA1 and - DQB1 in Koreans / 대한면역학회지

The thirteen DRB1, 6 DQA1, and 5 DQB1 alleles were defined in 362 healthy Korean controls using reverse dot blot hybridization method. The twenty-four immobilized SSOs for DRB1, 8 for DQA1, and 6 for DQB1 were used for this study. The frequencies of genotypes were DRB104 (17.1'Yo), '09 (13.1%), and '13 (11.6%); DQA1'01 (46.7%), 03 (30.8%), and '05 (11.7%); DQB1*03 (39.5%), '06 '(29.8%), and 05 (16.0%). ...continue...

DETECTION OF IDDM SUSCEPTIBILITY IN SHANGHAI HANS WITH HLA-DQA, OLIGONUCLEOTIDE PROBES / 中华内分泌代谢杂志

With polymerase chain reaction and dot-blot hybridization with allele-specific oligonucleoade probes,we analyse DQA1 gene of 42 insulin-dependent diabetes mellitus (IDDM) and 40 normal controls (the Han nationality in Shanghai). We found that the frequency of DQA1 * 0301 and DQA1 * 0501 allele in IDDM patients was greatly increased, while the frequency of DQA1 * 0103 and DQA1 * 0201 allele was significantly decreased as compared with the controls. The result indicates the contribution of the DQA1 * 0301 and DQA1 * 0501 alleles to IDDM susceptibility in Han population in Shanghai. Our results also provide confirmation of the role of DQA1 * 0103 and DQA1 * 0201 to IDDM resistance in the same population.

The association between HLA-DQA1 gene polymorphism and Graves' disease of children / 重庆医科大学学报

Objective:To seek for susceptible and protective gene of GD by analyzing the allele frequency distribution of HLA-DQA1 loci and to evaluate the association of HLA-DQA1 gene polymorphism with GD pathogenesis in Chongqing children of Han race.Methods:Eighty-five children with GD [including 21 boys and 64 girls,mean age (8.84?2.51)] and 50 racially matched healthy controls were recruited for the study.Both groups were of Han race.Genomic DNA was extracted from venous blood samples.Genotypes of HLA-DQA1 were detected by polymerase chain reactions with single strand conformation polymorphism (PCR-SSCP).The results were identified by DNA sequence typing.Frequencies of HLA-DQA1 alleles at eath locus were compared between patients and controls using the ? 2 -test.Results:7 kinds of HLA-DQA1 conformations were found in 85 GD and 50 healthy controls, respectively marked with a b c d e f g.Compared with control group,the frequencies of d and f conformation increased significantly [43.5% VS 8%, ? 2=18.79,P=0.001, relative risk(RR)=8.86;27% VS 8%, ? 2=6.80,P =0.009,RR=4.27],and the frequency of b conformation decreased significantly (8.2% vs 52%, ? 2=29.43,P=0.001, RR=0.08) in GD group.DNA sequence analysis showed that d conformation was HLA-DQAl*0102, f conformation was HLA-DQAl*0302/0501,b conformation was HLA-DQA1*0101/0301.Conclusion:The polymorphism of HLA-DQA1 loci in Chongqing children of Han race are different from that of Caucasian,American Black,Japanese and Hongkong Chinese. It shows that different race and area have different alleles.GD is significantly associated with HLA-DQA1*0102, HLA-DQA1*0302/0501 and HLA-DQA1*0101/0301.It suggests that the HLA-DQA1*0102 and HLA-DQA1*0302/0501 might be the genetic markers for susceptibility, HLA-DQA1*0101/0301 might be the protective genetic markers for GD in Chongqing children of Han race.

THE ASSOCIATION OF HLA DQA_1 52 ARGININE (+ ) WITH IDDM SUSCEPTIBILITY IN A / 中华内分泌代谢杂志

The HLA DQA1 genes of 40 IDDM patients (including 8 cases with onset of diabetes before 14 years of age, 19 between 15-30 years and 13 after 31 years) and 51 healthy controls were studied by using for allele specific oligonucleotide probes. All of our research subjects are of Southern Chinese origin. The results showed that the HLA DQA1 52Arg(+) associated IDDM susceptibility is significantly higher in the group younger than 14 years of age (P

HLA-DQA1 genotyping by PCR-SSP technique in Jing nationality of Central Vietnam / 中国免疫学杂志

Objective:To investigate the polymorphism of HLA-DQA1 genes in Jing nationality of Central Vietnam.Methods:Applied PCR-SSP tecnique to determine the polymorphism of the HLA-DQA1 alleles of 105 healthy children and youth,unrelated individuals in Central of Vietnam.Results:10 HLA-DQA1 alleles were detected of which DQA1*0104 were the most common allele with frequency of 21.3% and lowest frequency is DQA1*0601.Conclusion:The results indicate that HLA-DQA1 alleles polymorphism of Jing nationality in Central Vietnam is different from the other Chinese. [

PCR-RFLP polymorphism of HLA-DQA1 in Yichu of north Yunnan province and compared with other Chinese groups / 中国免疫学杂志

Objective:To investigate HLA DQA1 alleles distribution in the Yichu of Yangbi county, Yunnan province, compared with other Chinese group Methods:PCR RFLP.Results: Of 8 DQA1 alleles studied, DQA1*0301 (allele frequency 31 63%) is the most common allele in this Yichu, and DQA1*0401 (1 02%) is the rarest Chi square test shows that Yangbi Yichu has no significant difference with six northern Han groups, Man, Singaporean and Uygurs of Xinjiang In contrast, Buyi, Dai and Taiwanese is much more complicated with a significant difference from other groups A similar observation was found in Guangdong Han and Guangxi Zhuang Similar to Kazak, Uygurs showed no significant difference with some of northern Han groups Tibetans have no significant difference with Kazaks and Singaporean Conclusion: DQA1 complexity of southern ethnic group is probably result of mutilple origin or stress of different environment Yangbi Yi ethnic group has characteristic of Northern group