- Tytuł:
- A family screening of CD19 gene mutation by PCR-RFLP
- Autorzy:
-
Karaselek, Mehmet Ali
Kapaklı, Hasan
Güner, Şükrü Nail
Kurar, Ercan
Küççüktürk, Serkan
Keleş, Sevgi
Reisli, İsmail - Powiązania:
- https://bibliotekanauki.pl/articles/2054517.pdf
- Data publikacji:
- 2022-06-30
- Wydawca:
- Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
- Tematy:
-
CD19
PID
RFLP - Opis:
- 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.
- Źródło:
-
European Journal of Clinical and Experimental Medicine; 2022, 2; 141-145
2544-2406
2544-1361 - Pojawia się w:
- European Journal of Clinical and Experimental Medicine
- Dostawca treści:
- Biblioteka Nauki
Artykuł