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Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY - J. Korean Med. Sci. (2004)

Bottom Line: SSCP analysis for CYBB gene showed abnormal bands in all patients.The molecular defects of five patients were as follows: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC and c.434T>C mutation.This result will help the families with prenatal diagnosis or genetic counseling.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. hboh@amc.seoul.kr

ABSTRACT
Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD are responsible for about 70% of all cases. This study was done to confirm genetic defects of CYBB gene in five Korean patients who were highly suggestive of having CGD by clinical history. We performed initial screening for five unrelated Korean patients using single strand conformation polymorphism (SSCP) and then selective sequencing for the regions involving the abnormal bands. Activated NBT tests revealed that all patients were X-linked. SSCP analysis for CYBB gene showed abnormal bands in all patients. The molecular defects of five patients were as follows: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC and c.434T>C mutation. This result will help the families with prenatal diagnosis or genetic counseling.

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Related in: MedlinePlus

(A) The DNA sequence of patient 2 shows a c.1111-1G>T, (B) The cDNA RT-PCR reveals exon II deletion in patient 2 (lane 8). The 694 bp sized fragment included cDNA sequence from 1111 to 1784. Lane 1, 4, 7 were of a control. Lane 2, 5, 8 were of the patient. Lane 3, 6, 9 were of the patient's mother with both normal and abnormal bands in lane 9.
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Figure 2: (A) The DNA sequence of patient 2 shows a c.1111-1G>T, (B) The cDNA RT-PCR reveals exon II deletion in patient 2 (lane 8). The 694 bp sized fragment included cDNA sequence from 1111 to 1784. Lane 1, 4, 7 were of a control. Lane 2, 5, 8 were of the patient. Lane 3, 6, 9 were of the patient's mother with both normal and abnormal bands in lane 9.

Mentions: Because the defect in these patients was considered X-linked, we searched for mutations in CYBB gene. Abnormal bands by SSCP were found in all patients from exon 13, 11, 1, 9, and 5, respectively. Five patients were confirmed to have molecular defects in CYBB gene by selective sequencing of the regions (Table 1). The molecular defects in 5 patients were as follows: c.1663insT (Fig. 1), c.1111-1G>T (Fig. 2), c.39_40insG, c.927delC and c.434T>C mutation (Fig. 3).


Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.

Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY - J. Korean Med. Sci. (2004)

(A) The DNA sequence of patient 2 shows a c.1111-1G>T, (B) The cDNA RT-PCR reveals exon II deletion in patient 2 (lane 8). The 694 bp sized fragment included cDNA sequence from 1111 to 1784. Lane 1, 4, 7 were of a control. Lane 2, 5, 8 were of the patient. Lane 3, 6, 9 were of the patient's mother with both normal and abnormal bands in lane 9.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2822302&req=5

Figure 2: (A) The DNA sequence of patient 2 shows a c.1111-1G>T, (B) The cDNA RT-PCR reveals exon II deletion in patient 2 (lane 8). The 694 bp sized fragment included cDNA sequence from 1111 to 1784. Lane 1, 4, 7 were of a control. Lane 2, 5, 8 were of the patient. Lane 3, 6, 9 were of the patient's mother with both normal and abnormal bands in lane 9.
Mentions: Because the defect in these patients was considered X-linked, we searched for mutations in CYBB gene. Abnormal bands by SSCP were found in all patients from exon 13, 11, 1, 9, and 5, respectively. Five patients were confirmed to have molecular defects in CYBB gene by selective sequencing of the regions (Table 1). The molecular defects in 5 patients were as follows: c.1663insT (Fig. 1), c.1111-1G>T (Fig. 2), c.39_40insG, c.927delC and c.434T>C mutation (Fig. 3).

Bottom Line: SSCP analysis for CYBB gene showed abnormal bands in all patients.The molecular defects of five patients were as follows: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC and c.434T>C mutation.This result will help the families with prenatal diagnosis or genetic counseling.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. hboh@amc.seoul.kr

ABSTRACT
Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD are responsible for about 70% of all cases. This study was done to confirm genetic defects of CYBB gene in five Korean patients who were highly suggestive of having CGD by clinical history. We performed initial screening for five unrelated Korean patients using single strand conformation polymorphism (SSCP) and then selective sequencing for the regions involving the abnormal bands. Activated NBT tests revealed that all patients were X-linked. SSCP analysis for CYBB gene showed abnormal bands in all patients. The molecular defects of five patients were as follows: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC and c.434T>C mutation. This result will help the families with prenatal diagnosis or genetic counseling.

Show MeSH
Related in: MedlinePlus