A family screening of CD19 gene mutation by PCR-RFLP

Mehmet Ali Karaselek
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Hasan Kapaklı
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Şükrü Nail Güner
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Ercan Kurar
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Serkan Küççüktürk
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Sevgi Keleş
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İsmail Reisli
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Department of Internal Medicine, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey
Department of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
Department of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
Department of Medical Biology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
Department of Medical Biology, Faculty of Medicine, Karamanoğlu Mehmetbey University, Karaman, Turkey
Department of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
Department of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
Received: 15 September 2021 / Revised: 15 November 2021 / Accepted: 22 November 2021 / Published: 30 June 2022

Abstract

Introduction and aim. Mutation(s) in the gene encoding the CD19 molecule affect CD19 protein expression and primary immunodeficiency (PID) occurs. The PCR-RFLP method, which is faster and cheaper than other mutation detection methods, is rarely used in the diagnosis of PID. The study aimed to genetically identify CD19 deficiency, which is a PID, using the PCR-RFLP method.

Material and methods. A total of 8 patients and two healthy controls were included in the study and the relevant region genotypes in the CD19 gene were determined by performing PCR-RFLP analysis.

Results. The index case, newborn baby and mother were also included in the study. It was determined that the index case (P6) was homozygous mutant, the newborn baby (P7) and mother (P8) had heterozygous genotype. Based on this situation, one child (P1) was found to be homozygous mutant, mother (P2), father (P3) and other children (P4 and P5) had heterozygous genotype in the family, which was determined to be related to the first case.

Conclusion. In our study, it has been shown that PCR-RFLP is a method that can be used in the diagnosis of PID by determining genotypes using PCR-RFLP, and especially in terms of rapid genetic testing of family screenings.

 

Cite

Karaselek MA, Kapaklı H, Güner ŞN, Kurar E, et al. A family screening of “CD19” gene mutation by PCR-RFLP. Eur J Clin Exp Med. 2022;20(2):141–145. doi: 10.15584/ejcem.2022.2.1.

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