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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology 제2권 제1호
- 발행연도
- 2009.1
- 수록면
- 44 - 47 (4page)
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초록· 키워드
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Objectives. Hearing loss is the most common sensory disorder in humans and genetic causes are estimated to cause more
than 50% of all incidents of congenital hearing loss. To develop an efficient method for a genetic diagnosis of hearing
loss, we have developed and validated a genetic hearing loss DNA chip that allows the simultaneous analysis of
7 different mutations in the GJB2, SLC26A4, and the mtDNA 12S rRNA genes in Koreans.
Methods. A genotyping microarray, based on the allele-specific primer extension (ASPE) method, was used and preliminary
validation was examined from the five patients and five controls that were already known their genotypes by
DNA sequencing analysis.
Results. The cutoff Genotyping index (GI) of genotyping for each mutation was set up and validated to discriminate among
the genotypes. The result of the DNA chip assay was identical to those of previous results.
Conclusion. We successfully designed the genetic hearing loss DNA chip for the first time in Korea and it would be useful
for a clinical genetic diagnosis of hearing loss. Further consideration will be needed in order to examine the accuracy
of this DNA chip with much larger patient sample numbers.
목차
등록된 정보가 없습니다.
참고문헌 (21)
참고문헌 신청
Bae JW / 2008 / Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss / Int J Mol Med 22 (2) : 175 ~ 180
Brobby GW / 1998 / Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa / N Engl J Med 338 (8) : 548 ~ 550
Coucke PJ / 1999 / Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome / J Med Genet 36 (6) : 475 ~ 477
Cremers FP / 2007 / Development of a genotyping microarray for Usher syndrome / J Med Genet 44 (2) : 153 ~ 160
Dai P / 2007 / Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China / Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 42 (1
Brobby GW / 1998 / Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa / N Engl J Med 338 (8) : 548 ~ 550
Coucke PJ / 1999 / Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome / J Med Genet 36 (6) : 475 ~ 477
Cremers FP / 2007 / Development of a genotyping microarray for Usher syndrome / J Med Genet 44 (2) : 153 ~ 160
Dai P / 2007 / Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China / Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 42 (1
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