Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.
AUTOR(ES)
Mutter, G L
RESUMO
Numeric sex chromosome imbalances, or aneuploidies, are present in several pathological conditions including tumors, abnormal gestations, and clinical syndromes. Here we report a method to identify karyotypic imbalances of the X and Y chromosomes using the polymerase chain reaction (PCR). The polymerase chain reaction was used to quantitatively coamplify the sex chromosome linked genes ZFX and ZFY. Quantitation was facilitated by 1) use of a single primer set which recognizes both templates, 2) incorporation of radiolabelled nucleotides during amplification, and 3) use of amplification conditions which minimize heteroduplex formation. High accuracy of the method was confirmed by concordance with values expected from titrated male and female DNAs and cells from patients with sex chromosome aneuploidy. This approach provides a rapid and reproducible method of evaluating relative abundance of allelic genes, and might be applied to detection of autosomal aneuploidy.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=328563Documentos Relacionados
- Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR.
- Genomic analysis of human multigene families using chromosome-specific vectorette PCR.
- Sex Balance in Drosophila Melanogaster: Aneuploidy of Long Regions of Chromosome 3, Using the Triploid Method
- Children with Sex Chromosome Aneuploidy: Follow-Up Studies
- Strand-specific measurement of cisplatin-induced DNA damage and repair using quantitative PCR.