지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 380 - 384 (5page)
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초록· 키워드
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Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.
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참고문헌 (17)
참고문헌 신청
Alter BP / 2007 / Diagnosis, genetics, and management of inherited bone marrow failure syndromes / Hematology Am Soc Hematol Educ Program : 29 ~ 39
Bechtold A / 2006 / Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study / Fetal Diagn Ther 21 : 118 ~ 124
Bouchlaka C / 2003 / Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations / J Hum Genet 48 : 352 ~ 361
Callen E / 2004 / Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients / Cytogenet Genome Res
Grompe M / 2001 / Fanconi anemia and DNA repair / Hum Mol Genet 10 : 2253 ~ 2259
Bechtold A / 2006 / Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study / Fetal Diagn Ther 21 : 118 ~ 124
Bouchlaka C / 2003 / Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations / J Hum Genet 48 : 352 ~ 361
Callen E / 2004 / Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients / Cytogenet Genome Res
Grompe M / 2001 / Fanconi anemia and DNA repair / Hum Mol Genet 10 : 2253 ~ 2259
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