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
- 2011.1
- 수록면
- 290 - 293 (4page)
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초록· 키워드
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Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.
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참고문헌 (25)
참고문헌 신청
Asakai R / 1987 / Organization of the gene for human factor XI / Biochemistry 26 : 7221 ~ 7228
Asakai R / 1991 / Factor XI deficiency in Ashkenazi Jews in Israel / N Engl J Med 325 : 153 ~ 158
Balton-Maggs PH / 1995 / Definition of the bleeding tendency in factor XI-deficient kindreds--a clinical and laboratory study / Thromb Haemost 73 : 194 ~ 202
Balton-Maggs PH / 2004 / The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation / Haemophili
Berber E / 2011 / Molecular characterization of FXI deficiency / Clin Appl Thromb Hemost 17 : 27 ~ 32
Asakai R / 1991 / Factor XI deficiency in Ashkenazi Jews in Israel / N Engl J Med 325 : 153 ~ 158
Balton-Maggs PH / 1995 / Definition of the bleeding tendency in factor XI-deficient kindreds--a clinical and laboratory study / Thromb Haemost 73 : 194 ~ 202
Balton-Maggs PH / 2004 / The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation / Haemophili
Berber E / 2011 / Molecular characterization of FXI deficiency / Clin Appl Thromb Hemost 17 : 27 ~ 32
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