A sequencing-based typing method for HLA-DQA1 alleles

Rajalingam, Raja; Ge, Ping; Reed, Elaine F.

doi:10.1016/j.humimm.2004.01.012

Cited by 13 publications

(12 citation statements)

References 23 publications

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“…DQA1 has been recognized as difficult to type due to a 3-nucleotide deletion in exon 2 in part of the alleles. To circumvent the problem two solutions have been used, either allele-group specific sequencing, sequencing the alleles with and without deletion separately [10,[12][13][14]17], or a combination of the forward and reverse heterozygous sequencing up to the deletion [11,15,16]. The polymorphism of DQA1 was found not to be restricted to exon 2, raising the need to analyze exons 1, 3, and 4 in addition.…”

Section: Discussionmentioning

confidence: 99%

Sequence-Based Typing of the Complete Coding Sequence of DQA1 and Phenotype Frequencies in the Dutch Caucasian Population

Voorter

Berg‐Loonen

2006

Human Immunology

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Section: Discussionmentioning

confidence: 99%

Sequence-Based Typing of the Complete Coding Sequence of DQA1 and Phenotype Frequencies in the Dutch Caucasian Population

Voorter

Berg‐Loonen

2006

Human Immunology

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“…Following the methodology described by Rajalingam et al (13) , in order to sequence the HLA-DQA1 gene, it was necessary to make specific amplifications of three groups of alleles: group 1 (HLA-DQA1 * 01), group 2 (HLA-DQA1 * 02, * 04, * 05 and * 06 ) and group 3 (HLA-DQA1 * 03) (13) . For sequencing the HLA-DQB1, specific amplifications were made for two groups of alleles: the group consisting of HLA-DQB1 * 02, * 03 and * 04 and the group comprising HLA-DQB1 * 05 and * 06 (16) .…”

Section: Hla-typingmentioning

confidence: 99%

Celiac Disease in Children From Madeira Island and Its Prevalence in First Degree Relatives

Oliveira

Cabral

Ferreira

et al. 2014

Arq. Gastroenterol.

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ContextIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.ObjectivesThe aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives.MethodsA survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended.ResultsHLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02).ConclusionsThe prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

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“…[96–98] Significant increase of DRB1*0301 and DQB1*0201 in the patients is observed in North Indian studies. It is also observed that DRB1*0401 and DRB1*0405 is significantly increased and DRB1*0403 and DRB1*0404 to be significantly decreased in the patients as compared to controls.…”

Section: Genetic Factorsmentioning

confidence: 99%

“…[113] Because the repeated sequences follow one behind the other (in tandem) and because the number repeats varies between individuals, this phenomenon is called variable number of tandem repeats (VNTRs). [96114] There are three classes of VNTRs in the insulin gene: (i) Class I (26-63 repeats), (ii) Class II (approximately 80 repeats), and (iii) Class III (40-200repeats). [115]…”

Section: Genetic Factorsmentioning

confidence: 99%

Approaches in type 1 diabetes research: A status report

Raha

Chowdhury²,

Dasgupta³

et al. 2009

Int J Diab Dev Ctries

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Type 1 diabetes is a multifactorial disease with an early age of onset, in which the insulin producing β cell of the pancreas are destroyed because of autoimmunity. It is the second most common chronic disease in children and account for 5% to 10% of all diagnosed cases of diabetes. India is having an incidence of 10.6 cases/year/100,000, and recent studies indicate that the prevalence of type 1 diabetes in India is increasing. However in view of poor health care network, there is no monitoring system in the country. Of the 18 genomic intervals implicated for the risk to develop type 1 diabetes, the major histocompatibility complex (MHC) region on chromosome 6p21.31 has been the major contributor estimated to account for 40-50%, followed by 10% frequency of INS-VNTR at 5’ flanking region of the insulin gene on chromosome 11p15.5. However, population studies suggest that > 95% of type 1 diabetes have HLA-DR3 or DR4, or both, and in family studies, sibling pairs affected with type 1 diabetes have a non-random distribution of shared HLA haplotypes. As predisposing genetic factors such as HLA alleles are known, immunological interventions to prevent type 1 diabetes are of great interest. In the present study we have reviewed the status of molecular genetics of the disease and the approaches that need to be adopted in terms of developing patient and suitable control cohorts in the country.

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A sequencing-based typing method for HLA-DQA1 alleles

Cited by 13 publications

References 23 publications

Sequence-Based Typing of the Complete Coding Sequence of DQA1 and Phenotype Frequencies in the Dutch Caucasian Population

Sequence-Based Typing of the Complete Coding Sequence of DQA1 and Phenotype Frequencies in the Dutch Caucasian Population

Celiac Disease in Children From Madeira Island and Its Prevalence in First Degree Relatives

Approaches in type 1 diabetes research: A status report

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