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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 702 - 710 (9page)
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초록· 키워드
오류제보하기
Background : Malignant hyperthermia (MH) is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. However, the search for known and novel mutations in the RYR1 gene is hampered by the fact that the gene contains 106 exons. We aimed to analyze mutations from the entire RYR1 coding region in Korean MH families.
Methods : We investigated seven affected MH individuals and their family members. The entire RYR1 coding region from the genomic DNA was sequenced, and RYR1 haplotyping and mutational analysis were carried out.
Results : We identified nine different RYR1 mutations or variations from seven Korean MH families. Among these, five previously reported mutations (p.Gly248Arg, p.Arg2435His, p.Arg2458His, p.Arg-2676Trp, and p.Leu4838Val) and four novel variations of unknown significance (p.Arg2508Cys, p.Met-4022Val, p.Glu2669Lys, and p.Ala4295Val) were identified. In two families, two variations (R2676W &M4022V, R2435H & A4295V, respectively) were identified simultaneously. Four of the observed nine mutations or variations were located outside the hotspot region of RYR1 mutations.
Conclusions : These data indicate that RYR1 is a main candidate gene in Korean MH families, and that comprehensive screening of the entire coding sequence of the RYR1 gene is necessary for molecular genetic investigations in MH-susceptible individuals, owing to the presence of RYR1mutations or variations outside of the hotspot region. (Korean J Lab Med 2010;30:702-10)
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참고문헌 (24)
참고문헌 신청
Allen GC / 1998 / The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North Amer
Benkusky NA / 2004 / Ryanodine receptor channelopathies / Biochem Biophys Res Commun 322 : 1280 ~ 1285
Brandom BW / 2006 / Genetics of malignant hyperthermia / Scientific World Journal 6 : 1722 ~ 1730
Brini M / 2004 / Ryanodine receptor defects in muscle genetic diseases / Biochem Biophys Res Commun 322 : 1245 ~ 1255
Gillard EF / 1992 / Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
Benkusky NA / 2004 / Ryanodine receptor channelopathies / Biochem Biophys Res Commun 322 : 1280 ~ 1285
Brandom BW / 2006 / Genetics of malignant hyperthermia / Scientific World Journal 6 : 1722 ~ 1730
Brini M / 2004 / Ryanodine receptor defects in muscle genetic diseases / Biochem Biophys Res Commun 322 : 1245 ~ 1255
Gillard EF / 1992 / Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia
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