J Korean Med Sci.  2004 Apr;19(2):218-222. 10.3346/jkms.2004.19.2.218.

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

• KMID: 1733480
• DOI: http://doi.org/10.3346/jkms.2004.19.2.218

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.

Keyword

CYBB gene Product; Genetic Diseases, X-linked; Granulomatous Disease, Chronic; Neutrophils; Korea

MeSH Terms

Adult
Child
*Chromosomes, Human, X
DNA Mutational Analysis
Granulomatous Disease, Chronic/*genetics
Human
Infant
Korea
Linkage (Genetics)
Male
Point Mutation
*Polymorphism, Single-Stranded Conformational
Support, Non-U.S. Gov't

Figure

• 

  Fig. 1 (A) Compared with control (lane 1, 3, 4), SSCP analysis of patient 1 showed different migration pattern around exon 13 (lane 2), (B) The DNA sequence around exon 13 showed c.1663insT forming a premature TGA stop codon in patient 1.

• 

  Fig. 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.

• 

  Fig. 3 Novel mutations were found, including c.39_40insG in patient 3, c.927delC in patient 4 and c.434T>C in patient 5.

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