Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus
IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, cilt.8, ss.57-61, 2009 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 8
- Basım Tarihi: 2009
- Dergi Adı: IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.57-61
- Anahtar Kelimeler: Chronic granulomatous disease, CYBB, X-CGD, DHR assay, NBT, Prenatal diagnosis
- Erciyes Üniversitesi Adresli: Hayır
Özet
Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD) is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR) CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results.