미토콘드리아 DNA 데이터베이스의 통계학적 유용성 확인을 위한 파라미터 탐색
Searching for Appropriate Statistical Parameters for Validation of Mitochondrial DNA Database
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초록
Recently, studies on mitochondrial DNA (mtDNA) have increased rapidly. Conventional parameters, such as diversity index, pairwise comparison, are used tointerpret and validate data on autosomal DNA; however, the use of these parametersto validate data from mitochondrial DNA databases (mtDNA DBs) needs to be verifiedbecause of the different transmission patterns of mtDNA. This study was done to verifythe use of these conventional parameters and to test the“ coverage concept”for anew parameter. The mtDNA DB is not very big; however, it is necessary to check howthe change in parameters corresponds to the DB size. For this, we artificiallyrearranged a Korean DB into several small sub-DBs of variable sizes. The resultsshow that the diversity in nucleotide variations and the different haplotype numbers donot vary as the size of DB increases. However, the “coverage”changed a lot. Thecoverage increased from 0.113 in a DB of 100 people to 0.260 in a DB of 653 people. Additionally, using the“ coverage concept”, we predicted how the total number of haplotypeschanged with variations in the sub-DB size and compared the predicted resultwith final result. In conclusion,“ coverage”, in addition to conventional statistical parameters,can be used to check the usability of an mtDNA DB. Finally, we tried to predictthe size of the whole mtDNA number in Korea using“ saturation concept”.
Abstract
Recently, studies on mitochondrial DNA (mtDNA) have increased rapidly. Conventional parameters, such as diversity index, pairwise comparison, are used tointerpret and validate data on autosomal DNA; however, the use of these parametersto validate data from mitochondrial DNA databases (mtDNA DBs) needs to be verifiedbecause of the different transmission patterns of mtDNA. This study was done to verifythe use of these conventional parameters and to test the“ coverage concept”for anew parameter. The mtDNA DB is not very big; however, it is necessary to check howthe change in parameters corresponds to the DB size. For this, we artificiallyrearranged a Korean DB into several small sub-DBs of variable sizes. The resultsshow that the diversity in nucleotide variations and the different haplotype numbers donot vary as the size of DB increases. However, the “coverage”changed a lot. Thecoverage increased from 0.113 in a DB of 100 people to 0.260 in a DB of 653 people. Additionally, using the“ coverage concept”, we predicted how the total number of haplotypeschanged with variations in the sub-DB size and compared the predicted resultwith final result. In conclusion,“ coverage”, in addition to conventional statistical parameters,can be used to check the usability of an mtDNA DB. Finally, we tried to predictthe size of the whole mtDNA number in Korea using“ saturation concept”.
참고문헌 (13)
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