CORRELATION OF NULL BTK EXPRESSION AND GENE NONCODING MUTATIONS IN XLA PATIENTS

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

NASERI S.; SOROURI ZANJANI R.; POURPAK Z.; REZAEI NIMA; MOEIN MOSTAFA; PARVANEH N.; AGHAMOHAMMADI A.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Journal of Advances in Medical and Biomedical Research Year:2008 | Volume:16 | Issue:64 Page(s): 11-19

Download Full-Text

Persian Verion

View:

1,940

Download:

Cites:

Information Journal Paper

Title

CORRELATION OF NULL BTK EXPRESSION AND GENE NONCODING MUTATIONS IN XLA PATIENTS

Author(s)

Keywords

BTKQ3

NONCODING MUTATIONQ3

AGAMMAGLOBULINEMIAQ3

Abstract

Background and Objective: X-linked AGAMMAGLOBULINEMIA (XLA) is a primary immunodeficiency disorder characterized by recurrent bacterial infections, profound lack of serum antibodies and reduced circulating B lymphocytes. Mutations in Bruton´s tyrosine kinase gene (BTK) result in XLA. It is shown that absence of BTK protein expression may be accompanied by no mutations in coding regions in some cases, instead alterations in conserved regulatory domains of promoter and the first intron of BTK gene maybe occurred.The aim of this study was evaluation of BTK expression and mutation analysis in coding and regulatory regions of the gene.Materials and Methods: In this study, eleven XLA patients were enrolled. BTK expression was analyzed by western immunoblotting method. Mutation analysis was carried out in eight patients. In three cases, PCR of the regulatory regions was performed with designed primers, followed by sequencing.Results: According to western blot, normal BTK expression in three patients and null expression in eight others was observed. Mutation analysis showed two novel BTK mutations in two patients (1038-1040 delAGG and IVS8-2delA). No coding or regulatory region mutations were found in three cases with null BTK expression.Conclusion: Based on these results, three cases with null expression and had no coding or regulatory reion mutations are interesting. It is possible that some rare regulatory defects may have been occurred, other than conventional sites. This must be taken into account for future investigations.

Cites

No record.

References

No record.

Cite

APA: Copy

NASERI, S., SOROURI ZANJANI, R., REZAEI, NIMA, MOEIN, MOSTAFA, PARVANEH, N., AGHAMOHAMMADI, A., & POURPAK, Z.. (2008). CORRELATION OF NULL BTK EXPRESSION AND GENE NONCODING MUTATIONS IN XLA PATIENTS. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, 16(64), 11-19. SID. https://sid.ir/paper/61016/en

Vancouver: Copy

NASERI S., SOROURI ZANJANI R., REZAEI NIMA, MOEIN MOSTAFA, PARVANEH N., AGHAMOHAMMADI A., POURPAK Z.. CORRELATION OF NULL BTK EXPRESSION AND GENE NONCODING MUTATIONS IN XLA PATIENTS. JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH[Internet]. 2008;16(64):11-19. Available from: https://sid.ir/paper/61016/en

IEEE: Copy

S. NASERI, R. SOROURI ZANJANI, NIMA REZAEI, MOSTAFA MOEIN, N. PARVANEH, A. AGHAMOHAMMADI, and Z. POURPAK, “CORRELATION OF NULL BTK EXPRESSION AND GENE NONCODING MUTATIONS IN XLA PATIENTS,” JOURNAL OF ADVANCES IN MEDICAL AND BIOMEDICAL RESEARCH, vol. 16, no. 64, pp. 11–19, 2008, [Online]. Available: https://sid.ir/paper/61016/en

Related Journal Papers