• 대한임상검사과학회지
• /
• 제44권3호
• /
• pp.128-135
• /
• 2012

The kidney and cochlea have similar physiological characteristics, specifically the active transport of fluid and electrolytes, similar effects of aminoglycosides and some immunological factors. Several mitochondrial DNA (mtDNA) defects have been identified to be associated with hearing impairment either in syndromic or nonsyndromic forms. Dialysis patients had more oxidative stress than healthy subjects and this elevated oxidative stress leads to alterations of the mtDNA. To generate a more comprehensive analysis of the relationship between mitochondrial variation and hearing loss, two SNPs of 10609, 14668 position showed nominal levels of association with hearing loss. In our result, the mean PTA values in the ESRD patients were $28{\pm}13.9\;(mean{\pm}SD)dB$ and $51.0{\pm}23.2dB$ in low and high frequencies, which were significantly higher than those in the normal controls. 10609T>C and 14668C>T were significantly associated with hearing loss in the ESRD patients. In summary, our results suggest that the polymorphisms of the ND4L subunit gene might be association with ESRD patients and hearing loss.

• Animal Systematics, Evolution and Diversity
• /
• 제16권2호
• /
• pp.169-176
• /
• 2000

제주도산 노루 (C. Pygargus tianschanicus)의 분류학적 위치를 규명하기 위한 연구의 일환으로, 한국의 제주도에서 채집된 6마리의 노루 표본들을 이용하여 mtDNA의 cytochrome b 유전자의 부분적인 염기서열의 분석을 하였다. 밝혀진 세 haplotype간의 nucleotide Tamura & Nei's distance는 최대 0.005로써, 노루의 다른 아종 내의 다양성과 비슷한 정도였다. 또한 제주도산 노루의 cytochrome b 염기서열들과 GenBank에서 얻은 서 시베리아 지역의 노루인 C. p. Pygargus의 cytochrome b 염기서열간의 nucleotide distance는 평균 0.013였으며, C. p. tianschanicus는 65만년 전에 서 시베리아 지역의 노루인 C. p. Pygargus에서 분화되었을 것으로 판단된다.

• 한국동물학회:학술대회논문집
• /
• 한국동물학회 2001년도 공동 춘계학술대회
• /
• pp.60.1-60
• /
• 2001

• Clinical and Experimental Reproductive Medicine
• /
• 제30권3호
• /
• pp.203-206
• /
• 2003

Objectives: Controversial arguments exists on both the case for and against on the accumulation of mitochondrial DNA (mtDNA) deletion in association to tissue and age. The debate continues as to whether this mutation is a major contributor to the phenotypic expression of aging and common degenerative diseases or simply a clinical insignificant epiphenomenon. The objective of this study was to determine whether the accumulation of mtDNA deletion is correlated with age-related and tissue-specific variation. Materials and Methods: One hundred and fifty-seven tissues from blood, ovary, uterine muscle, and abdominal muscle were obtained from patients ranging in age from 31$\sim$60 years. After reviewing the clinical reports, patients with mitochondrial disorder were excluded from this study. The tissues were obtained at gynecological surgeries with the consent of the patient. Total DNA isolated from blood, ovary, uterine muscle, and abdominal muscle was amplified by two rounds of PCR using two pairs of primers corresponding to positions 8225-8247 (sense), 13551-13574 (antisense) for the area around deleted mtDNA and 8421-8440 (sense), 13520-13501 (antisense) for nested PCR product. A statistical analysis was performed by $x^2$-test. Results: About 0% of blood, 94.8% of ovary, 71.4% of uterine muscle, and 86.1% abdominal muscle harbored mtDNA deletion. When we examined the proportion of deleted mtDNA according to age deletion rate was 90% of ovary, 63.6% of uterine muscle, 77.7% of abdominal muscle in thirties and 100% of all tissue in fifties. Conclusion: The findings of this study suggest that the mtDNA deletion is varied in tissue-specific pattern and increases with aging.

• Animal cells and systems
• /
• 제16권4호
• /
• pp.313-320
• /
• 2012

Genetic variation was surveyed at four microsatellite loci and 1416 base pairs (bp) of the mitochondrial DNA (mtDNA) cytochrome c oxidase I gene (COI) to clarify the genetic structure of the small yellow croaker, Larimichthys polyactis, in the Yellow and East China Seas, especially regarding four provisional populations, (one Korean and three Chinese populations). Based on microsatellite DNA variations, the estimated expected heterozygosity ($H_E$) in each population ranged from 0.776 to 0.947. The microsatellite pairwise $F_{ST}$ estimates showed no significant genetic differentiation between the populations. MtDNA variations also indicated no genetic structure in L. polyactis, but very high variability. The absence of genetic differentiation among and within populations of L. polyactis may either result from the random migration of the adult or the passive dispersal of the eggs and larvae.

• 생명과학회지
• /
• 제21권3호
• /
• pp.341-348
• /
• 2011

제주재래돼지의 모계 혈통에 대한 보다 명확한 이해를 얻기 위해, 본 연구에서는 제주재래돼지의 미토콘드리아 DNA (mtDNA) CYTB 유전자를 분석하고 이를 타 품종들에서 얻은 결과들과 비교하였다. 제주재래돼지를 포함한 돼지 6 품종에서 PCR-RFLP 분석을 수행하였고, RFLP 양상은 돼지 품종들을 뚜렷하게 구분되는 두 가지 반수체형(mtCYTB1 and mtCYTB2)으로 분리시켰다. 제주재래돼지 CYTB 서열들은 계통수 상에서 유럽과 아시아품종 cluster에서 모두 발견되었다. 제주재래돼지 CYTB들 중에서 J2 group은 중국재래돼지품종들과 근연이면서 아시아 고유 돼지 계통들과 함께 출현하였으며, 다른 한 group인 J1에 해당하는 서열들은 유럽돼지 계통들과 함께 위치하였고, 아시아 품종들보다는 스페인의 Iberian 재래돼지들과 근연인 것으로 확인되었다. 이 결과들은 현재 제주도에서 사육되고 있는 제주재래돼지 품종의 모계 기원은 크게 아시아계 돼지와 유럽계 돼지인 것으로 추정됨을 보여준다. 따라서 본 연구결과들은 제주재래돼지 집단은 과거에 가축화된 아시아 고유 돼지품종들과 공통 선조를 공유하고, 또한 20세기에 유입된 유럽계 돼지 품종들도 현재의 집단 형성에 기여한 것임을 시사하고 있다.

• Asian-Australasian Journal of Animal Sciences
• /
• 제20권2호
• /
• pp.178-183
• /
• 2007

China has numerous native domestic goat breeds, but so far there has been no extensive study on genetic diversity, population demographic history, and origin of Chinese goats. To determine the origin and genetic diversity of Chinese goats, we analyzed the complete mtDNA D-loop sequences of 183 goats from 13 breeds. The haplotype diversity value found in each breed ranged from 0.9333 to 1.0000. The nucleotide diversity value ranged from 0.006337 to 0.025194. Our results showed that there were four mtDNA lineages (A, B, C and D), in which lineage A was predominant, lineage B was moderate, and lineages C and D were at low frequencies. Lineages C and D were observed only in the Tibetan breed. The results revealed multiple maternal origins of Chinese domestic goats. There was weaker geographical structuring in the 13 Chinese goat populations, which suggested that there existed high gene flow among goat populations caused by the extensive transportation of goats in the course of history.

• 대한유전성대사질환학회지
• /
• 제22권1호
• /
• pp.28-36
• /
• 2022

목적: 혈장 아미노산(PAA) 및 소변 유기산(UOA) 분석에서 비정상적인 대사 산물의 검출은 리 증후군과 같은 임상 미토콘드리아 질환을 진단하는 데 사용되었다. 본 연구에서는 PAA 및 UOA 분석의 진단적 가치와 유효성을 검토하였다. 방법: 이 논문은 2003년에서 2018년 사이에 단일 3차 진료 센터에서 진단된 리 증후군 환자에 대상으로 후향적 연구로 진행되었다. 전체 미토콘드리아 시퀀싱 및 핵 DNA 관련 미토콘드리아 유전자 패널 분석을 통해 미토콘드리아 DNA (mtDNA) 돌연변이 관련 리 증후군에 대해 19명의 환자가 양성이었고 57명의 환자는 음성인 것으로 밝혀졌다. 그 이후에 PAA 및 UOA 분석 결과를 비교하였다. 결과: 두 그룹 간의 PAA 및 UOA 분석 결과를 비교한 결과, mtDNA 돌연변이 양성 Leigh 증후군과 mtDNA 돌연변이 음성 Leigh 증후군 그룹 간에 비정상적인 대사 산물은 뚜렷한 차이를 보이지 않았다. 결론: PAA 및 UOA 분석은 리 증후군을 진단하거나 mtDNA 돌연변이 관련 리 증후군을 선별하기 위한 부적절한 검사 방법이다. 그러나 UOA 분석은 여전히 리 증후군에 대한 적합한 선별 검사일 수 있다.

• International Journal of Industrial Entomology and Biomaterials
• /
• 제1권1호
• /
• pp.9-17
• /
• 2000

Genetic variation in the domestic silkworm strains (Bombyx mori) and phylogenetic relationships between domestic silkworms and wild silkworms (B. mandarina) were investigated by using a portion of mitochondrial CGI gene sequences. Ten geographic strains of B. mori we sequenced were identical in the 410 bp-section of mitochondrial COI gene. This sequence was also identical to the homologous sequence of the four Gen-Bank-registered strains, but one strain of B. mori differed a single nucleotide (0.2%) from others. MtDNA homogeneity in the B. mori strains appears to be resulted from fixation into the mast frequent mtDNA type during the course of breeding for new strains, in which an extensive indoor rearing and removal of unwanted individuals were accompanied. In the comparisons between domestic and wild silkworms, some wild silkworms were closely related to domestic silkworms (0.2%-1.2% of divergence), but the others were not (2.7%-3.7% of sequence divergence). This result was also reflected in the phylogenetic analyses, showing two independent phylogenetic groups: one including all B. mandarina sequences and the other including both B. mandarina and B. mori sequences. Thus, domestic silkworms may have been derived from the ancestor of B. mandarina, which belongs to this group, alto-ough more extensive study will provide better understanding on this issue.

• Asian-Australasian Journal of Animal Sciences
• /
• 제26권2호
• /
• pp.163-170
• /
• 2013

In order to analyze the genetic diversity and phylogenetic status of the Korean Chikso breed, we determined sequences of mtDNA cytochrome b (cyt b) gene and performed phylogenetic analysis using 239 individuals from 5 Chikso populations. Five non-synonymous mutations of a total of 15 polymorphic sites were identified among 239 cyt b coding sequences. Thirteen haplotypes were defined, and haplotype diversity was 0.4709 ranging from 0.2577 to 0.6114. Thirty-five haplotypes (C1-C35) were classified among 9 Asia and 3 European breeds. C2 was a major haplotype that contained 206 sequences (64.6%) from all breeds used. C3-C13 haplotypes were Chikso-specific haplotypes. C1 and C2 haplotypes contained 80.5% of cyt b sequences of Hanwoo, Yanbian, Zaosheng and JB breeds. In phylogenetic analyses, the Chikso breed was contained into B. taurus lineage and was genetically more closely related to two Chinese breeds than to Korean brown cattle, Hanwoo. These results suggest that Chikso and Hanwoo have a genetic difference based on the mtDNA cyt b gene as well as their coat color, sufficient for classification as a separate breed.