Journal of Life Science (생명과학회지)

Korean Society of Life Science (한국생명과학회)
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Identification of a Mitochondrial DNA Mutation in Paraffin-Embedded Muscle Tissues

파라핀조직을 이용한 미토콘드리아 DNA 돌연변이 확인

  • 김상호 (대구대학교 사범대학 생물교육전공) ;
  • 유석호 (한국과학기술원 의과학연구센터)
  • Published : 2004.04.01
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Abstract

We investigated feasibility of using the formalin-fixed and paraffin-embedded tissue to study mitochondrial mutations in the case that fresh or frozen tissue, or blood samples are not available. Four paraffin blocks of muscle biopsies in Korean MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) patients were chosen. Total DNA was extracted from these blocks for PCR/RFLP analysis, and sequencing was performed to study the most common mutation, A to G transition at nucleotide position 3243 underlying MELAS in the mitochondrial tRN $A^{Leu(UUR)}$ gene. We could identify the A to G mutation at nt.3243 in three MELAS patients. Our results show that the mitochondrial genome of our paraffin blocks is presumably in good condition. Our results are in accordance with the previous findings by other investigators that PCR allows molecular genetic analysis of paraffin-embedded tissues stored in most histopathology laboratories.s.

환자의 생조직, 얼린 조직 혹은 혈액이 없는 경우에, formalin으로 고정된 파라핀조직을 이용하여 미토콘드리아 돌연변이를 확인할 수 있는지를 조사하였다. MELAS 환자 4명의 파라핀조직을 택해 이들 조직으로부터 DNA를 추출하여 대부분의 MELAS 환자 미토콘드리아 DNA의 tRN $A^{Leu(UUR)}$ gene의 3243지역에서 발견되는 Adenine의 Cuanine으로의 염기치환을 확인하고자 하였다. 실험결과 3명의 환자에게서 이 점 돌연변이를 확인할 수 있어 이들 파라핀조직의 상태가 좋은 것으로 여겨져 미토콘드리아 DNA 돌연변이 연구에 파라핀조직을 활용할 수 있을 것으로 보인다.다.

Keywords

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