Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages
| Autor: | Isabel Lorda-Sanchez, M.J. Trujillo, Cristina Gonzalez-Gonzalez, Maria Garcia-Hoyos, Dan Diego-Alvarez, Marta Rodriguez de Alba, Carmen Ramos-Corrales, Carmen Ayuso |
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| Rok vydání: | 2005 |
| Předmět: |
Genetic Markers
Male Genetic counseling Aneuploidy Trisomy Biology Polymerase Chain Reaction Fluorescence law.invention Meiosis Pregnancy law medicine Humans Multiplex Polymerase chain reaction Chromosome Aberrations Genetics Rehabilitation Obstetrics and Gynecology Chromosome medicine.disease Abortion Spontaneous Reproductive Medicine Tandem Repeat Sequences Karyotyping Chromosome abnormality Microsatellite Female |
| Zdroj: | Human Reproduction. 20:1235-1243 |
| ISSN: | 1460-2350 0268-1161 |
| Popis: | BACKGROUND Aneuploidies involve approximately 80% of chromosomal anomalies found in spontaneous miscarriages. Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) technique to the study of numerical chromosome anomalies in miscarriages. METHODS Multiplex and simple QF-PCR assays have been performed on 160 miscarriage and 34 parental DNA samples analysing specific short tandem repeat (STR) markers for chromosomes 2, 7, 13, 15, 16, 18, 21, 22 and X. Cases successfully karyotyped were used as controls in our study. RESULTS While maternal contamination could be detected in such cases, a molecular result was obtained for 94% of miscarriages without a cytogenetic one. Thirty-six per cent of them were diagnosed with numerical chromosome anomalies. Parental origin of the extra chromosome and the error stage of meiosis could be also determined. CONCLUSIONS QF-PCR represents a useful and reliable tool to diagnose aneuploidies in spontaneous miscarriages. It provides information about parental and meiotic origin of anomaly, allowing an appropriate genetic counselling. |
| Databáze: | OpenAIRE |
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