A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans
Exp. mol. med
; Exp. mol. med;: 618-628, 2009.
Article
en En
| WPRIM
| ID: wpr-10784
Biblioteca responsable:
WPRO
ABSTRACT
To examine copy number variations among the Korean population, we compared individual genomes with the Korean reference genome assembly using the publicly available Korean HapMap SNP 50 k chip data from 90 individuals. Korean individuals exhibited 123 copy number variation regions (CNVRs) covering 27.2 mb, equivalent to 1.0% of the genome in the copy number variation (CNV) analysis using the combined criteria of P value (P or = 0.25) among study subjects. In contrast, when compared to the Affymetrix reference genome assembly from multiple ethnic groups, considerably more CNVRs (n = 643) were detected in larger proportions (5.0%) of the genome covering 135.1 mb even by more stringent criteria (P or = 0.25), reflecting ethnic diversity of structural variations between Korean and other populations. Some CNVRs were validated by the quantitative multiplex PCR of short fluorescent fragment (QMPSF) method, and then copy number invariant regions were detected among the study subjects. These copy number invariant regions would be used as good internal controls for further CNV studies. Lastly, we demonstrated that the CNV information could stratify even a single ethnic population with a proper reference genome assembly from multiple heterogeneous populations.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Genoma Humano
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
/
Variaciones en el Número de Copia de ADN
/
Genética de Población
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Exp. mol. med
Año:
2009
Tipo del documento:
Article