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Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube
최민철,배진식,정상근,박현,주원덕,송승훈,이찬,김지호,이기찬,이성훈,이제호 대한부인종양학회 2018 Journal of Gynecologic Oncology Vol.29 No.4
OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records. Genetic variations were detected using the panel and were cross-validated by Sanger direct sequencing. RESULTS: Germline BRCA1/2 mutations were identified in 6 patients (23.1%). Four were detected in patients with PC and 2 were in FTC patients. No mutations were detected in TP53, PTEN, CDH1, or PALB2. We identified 11 variant of uncertain significance (VUS) in 9 patients; 2 in BRCA1, 3 in BRCA2, 2 in TP53, and 4 in CDH1. We also detected a CDH1 c.2164+16->A VUS in 3 patients. CONCLUSION: The prevalence of germline BRCA1/2 mutations in patients with PC or FTC is comparable to that of BRCA1/2 mutations in epithelial ovarian cancer patients.
배추좀나방(나비목: 집나방과)의 haplotype 다양성과 유전자 이동률
김익수,배진식,최광호,진병래,이경로,손흥대 한국응용곤충학회 2000 한국응용곤충학회지 Vol.39 No.1
국내 4개 지역으로부터 채집된 배추좀나방(Plutella xylostella)의 미토콘드리아 DNA중 COI 유전자 일부 (438 bp)의 염기서열을 결정, 유전적 다양도 및 유전자 이동정도를 파악함으로써 집단 유전적 구조 및 특성에 대하여 연구하였다. 총 21개체로부터 13개의 mtDNA haplotype을 얻었으며 이들의 변이는 0.3~1.4%로 다른 곤충을 대상으로 한 유사연구와 비슷한 크기를 나타내었으며 haplotype 다양도는 매우 높았다(평균 h=0.81). 지리적으로 먼 제주도의 개체군과 경남 김해 두 지역(11km 거리)의 개체군을 비교한 결과, 통계적으로 유의한 정도의 유전적 격리(p<0.05%)는 전혀 관찰되지 않았으며, 대신 상당한 정도의 세대당 암컷 이동률(Nm=2-30)을 보였다. 또한 GenBank에 등록된 하와이의 배추좀나방 haplotype은 본 연구에서 얻은 것들과 유전적으로 흡사하였다. 종합적으로, 국내 배추좀나방은 전체적으로는 많은 haplotype수에 기인한 적절한 크기의 유전적 분화율을 보유하고 있으며 국지적으로는 상당한 이동력에 의한 장거리 이동으로 개체군내 높은 haplotype 다양도를 보이며 동시에 지역간의 유전적 유사성을 나타낸다고 요약되었다. A portion of mitochondria1 COI gene (438 bp) was sequenced from the sampls of Plutella xylostella from four localities in Korea to investigate the population genetic structure and characteristics by measuring the magnitude of genetic diversity and the degree of gene flow among populations. Thirteen haplotypes ranging in nucleotide divergence 0.3% to 1.4%, were obtained from 21 individuals. The nucleotide divergence was similar to the other related studies, but haplotype diversity was substantially higher (mean h = 0.81). The genetic distance among geographically remote Cheju Island population and the two Kimhae populations, distant 1 lkm to each other, was not statistically significant (p<0.05). Instead, a substantial or high female gene flow was detected (Nm = 2-30). One Hawaiian haplotype of the diamondback moth obtained through GenBank search also was genetically similar to the ones obtained from this study. Collectively, the genetic population structure of the diamondback moth in Korea can be characterized into two aspects. First, the diamondback moths in Korea possesses overall moderate genetic divergence based on a high number of haplotypes. Second, a high haplotype diversity within each population due to the long distance dispersal with a substantial dispersal power and the resultant genetic similarity among geographic populations is characteristic.