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Science and Education Publishing (SciEP) is a multidisciplinary open access publisher of Journals covering the fields of Science, Technology and Medicine. All SciEP publications are subject to high-quality peer review, editorial and production processes and are freely available online.

Welcome to the April, 2013 edition of SciEP newsletter, providing monthly summaries of articles on science & education related topics of interest to scientist and professionals. The mission of our journals is to provide an open access forum for publishing new findings on issues pertinent to scientific and academic field. We also invite you to submit original research papers, review articles, short reports, or case studies are considered for publication in our Multidisciplinary Journals.

American Journal of Public Health Research
DOI: 10.12691/ajphr-1-1-3

The Implementation of a Tele-Homecare System with Service Oriented Architecture and HL7 Message Transmission Standard
Ching-Sung Wang

American Journal of Medical and Biological Research
DOI: 10.12691/ajmbr-1-1-2

The Influence of Ethanol on Pyruvate Kinases Activity in Vivo, in Vitro, in Silico
Lelevich Sergey Vladimirovich, Khrustalev Vladislav Victorovich, Barkovsky Eugene Victorovich, Shedogubova Tatyana Aleksandrovna

American Journal of Medical Sciences and Medicine
DOI: 10.12691/ajmsm-1-1-1

Clinical and Histological Features in Wegener Granulomatosis
Li Cavoli Gioacchino, Passantino Rita, Bono Luisa, Tortorici Calogera, Ferrantelli Angelo, Giammarresi Carlo, Rotolo Ugo

American Journal of Infectious Diseases and Microbiology
DOI: 10.12691/ajidm-1-1-2

The Curse of Lymphatic Filariasis: Would the Continual Use of Diethylcarbamazine Eliminate this Scourge in Papua New Guinea?
Anne Lanham, Lillian Mwanri

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American Journal of Medicine Studies
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Standardization of Genetic Tests in Celiac Disease

Iulia Lupan, Anamaria Girbovan*, Gabriel Samasca

Department of Immunology, “Iuliu Haţieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania

Abstract: With all the advancements of science, genetic tests are important for the diagnosis of celiac disease but a lack of standardization is evidenced.

Keywords: celiac disease, HLA, diagnosis

Citation: Iulia Lupan, Anamaria Girbovan, Gabriel Samasca, Standardization of Genetic Tests in Celiac Disease. International Journal of Celiac Disease, 5 (2). 48-49. January 2017. doi:10.12691/ijcd-5-2-9

1. Introduction

Human Leucocyte Antigens (HLA) are glycoproteins present on cell membranes. These antigenes are responsible for recognition of self and non-self structures, the immune response to antigenic stimulations, and the coordination of humoral and cellular immune response. Major histocompatibility complex (MHC) molecules play a central role in intra- and inter-cellular events leading to immune response. After their synthesis and expression, on antigen-presenting cells (APC) and other cells expressing HLA, MHC molecules are brought into contact with antigens.

- peptides of intracellular origin are transported by Class I molecules;

- extracellular proteins are processed to small peptides, which are afterwards transported on cell surface Class II molecules.

On cell surface, MHC molecules influence intercellular communication for afferent and efferent components of immune response.

2. Detection of HLA Antigens

Reactions based on DNA using molecular biology – have several advantages over serological and cellular reactions: specificity and sensitivity, requiring a lower volume of samples studied, demanding less time of processing. Another advantage of great value is not requiring the presence of cell surface antigens or cell viability.

2.1. RFLP = Restriction Fragment Length Polimorfism

DNA isolated from peripheral blood leukocytes is fragmented into small fragments at specific positions, by specific bacterial enzymes called endonucleases. These fragments have different molecular weights will migrate on gel electrophoresis in different positions. Then, DNA is transferred from gel to a membrane. Application of labeled samples allows detection for different bands, where the sample is attached to specific segments of nucleic acid.

RFLP is being replaced today by PCR.

2.2. PCR = Polymerase Chain Reaction

a) PCR-SSOP/SSO = sequence specific oligonucleotide probes

Specific oligonucleotids hybridization generates the PCR product, which is afterwards applied to a membrane or a filter that are applied to SSOP labels. These short fragments of DNA will hybridize with complementary sequences, as a result, identifying groups or individual alleles.

The advantages are that all loci of class II can be printed in order to achieving highly specific information. Disadvantages include potential difficulties in interpreting the results and the need to use multiple filters and perform several hybridizations.

b) PCR-SSP = sequence specific primers

The method uses specific sequences of primers, targeting a particular DNA sequence. The procedure, know as PCR-SSP is based on the application of high specificity while amplifying rather than upon hybridization. Because SSP has some specific targets, the presence of amplified material indicates the corresponding alleles.

SSOP and SSP can be combined resulting in high-resolution typing. Low resolution typing or generic detects equivalence HLA serology with high accuracy, distinguishing the DR2 by DR1, while high-resolution typing distinguishes individual alleles, and the DRB * 0101 by DRB * 0102.

3. Conclusion

Standardization of genetic tests is needed in celiac disease diagnosis.

References

[1]   | Dyer P., Middleton D. Histocompatibility Testing, A Practical Approach. Press; 1992.
[2]   | Inoko H. and Ota M. PCR-RFLP, in Handbook of HLA Typing Techniques (Hui K.M. and Bidwell J.L. et all) CRC Press, Boca Raton;1993:9-70.