Application of array-based comparative genomic hybridization in precise diagnosis of unbalanced chromosome aberration.
- Author:
Fang FU
1
;
Can LIAO
;
Min PAN
;
Cuixing YI
;
Han LIU
;
Simin YUAN
;
Shunyan HU
;
Huizhu ZHONG
;
Dongzhi LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Cells; cytology; Child, Preschool; Chromosome Aberrations; Comparative Genomic Hybridization; methods; Genetic Diseases, Inborn; diagnosis; genetics; Humans; Infant; Male; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(1):47-51
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the method of array-based comparative genomic hybridization (array-CGH) in identifying unbalanced chromosome aberrations.
METHODSFour cases that could not be diagnosed by conventional cytogenetic technique were selected to undergo array-CGH analysis. DNA samples were extracted and hybridized with the Affymetrix SNP 6.0 arrays using Human Mapping SNP6.0 assay kit following the manufacturer's standard protocol. The data were analyzed by two professional software packages, GCOS and Genotyping Console.
RESULTSBy using array-CGH technique, all the four cases were diagnosed precisely through identifying two duplications and two complex derivative chromosomes.
CONCLUSIONArray-CGH is an effective method for whole-genome identification of unbalanced chromosomal aberrations with high sensitivity and specificity. It has a great value to investigate the correlations between genotype and phenotype in clinical service, especially in prenatal diagnosis.
