Gene-scan method for the recognition of carriers and patients with p47^phox-deficient autosomal recessive chronic granulomatous disease

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• 作者：Dekker ; Jan ; de Boer ; Martin ; Roos ; Dirk
• 刊名：Experimental Hematology
• 出版年：2001
• 期刊代码：100_0301472x
• 类别：med
• 出版时间：November, 2001
• 卷：29
• 期：11
• 页码：1319-1325
• 文件大小：783 K

摘要

We devised a method to recognize carriers and patients with p47^phox-deficient chronic granulomatous disease (A47 CGD), the most common autosomal form of the disease. CGD is characterized by the inability of phagocytic leukocytes to kill microorganisms, due to a defective NADPH oxidase system. The predominant genetic defect leading to p47^phox-deficient CGD is a GT deletion at the beginning of exon 2 in the p47^phox gene NCF1, most likely caused by recombination events between the NCF1 and one of its pseudogenes. It is hardly possible to investigate sequences of patients, carriers, and normal individuals using standard PCR/sequencing techniques, due to greater than 99%homology between NCF1 and its pseudogenes.