Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0.
- VernacularTitle:应用Affymetrix全基因组芯片检测染色体7q36区域的DNA拷贝数突变
- Author:
Fen MA
1
;
Feng-xia WU
;
Ning LI
;
Qing LIU
;
Wei YANG
;
Xue ZHANG
;
Miao SUN
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Mapping; methods; Chromosomes, Human, Pair 7; DNA; analysis; Female; Gene Dosage; genetics; Gene Duplication; Genome, Human; Hand Deformities, Congenital; genetics; Humans; Male; Mutation; Oligonucleotide Array Sequence Analysis; methods; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; genetics
- From: Chinese Journal of Medical Genetics 2009;26(3):336-339
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR).
METHODSGenomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3.0. The qPCR assay was carried out using the DeltaDeltaCT method to validate the duplication.
RESULTSWith use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387 kb.
CONCLUSIONScreening with the Affymetrix Genome-Wide Human SNP Array 6.0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.
