| Autor: |
Deeb, Kristin K., Metcalf, James D., Sesock, Kaitlin M., Shen, Junqing, Wensel, Christine A., Rippel, Larisa I., Smith, Michelle, Chapman, Mark S., Zhang, Shulin |
| Zdroj: |
The Journal of Molecular Diagnostics; July 2015, Vol. 17 Issue: 4 p360-365, 6p |
| Abstrakt: |
Cystic fibrosis (CF) is one of the most common recessive conditions among whites, with an estimated carrier frequency of 1 in 25 in the United States. Population-based CF carrier screening was implemented in the United States in 2001. The number of mutations screened by each laboratory may vary; however, the 23 most common CF mutations recommended for screening by the American College of Medical Genetics and American College of Obstetricians and Gynecologists are included in all platforms. The c.1364C>A (p.A455E) mutation located in exon 10 of the CFTRgene is one of the 23 mutations. Because CFTRexon 10 and its flanking intronic regions are duplicated and transposed onto several other chromosomes of the human genome during evolution and function as unprocessed pseudogenes, variations in the CFTRpseudogenes may confound CF screening results for mutations located in exon 10 of the CFTRgene. We report an incorrectly identified carrier status for the c.1364C>A (p.A455E) mutation in a healthy individual using the Hologic InPlex CF assay. Further analysis revealed that the mutation resides in one of the CFTRpseudogenes. Because most commercial kits and laboratory-developed tests for CF carrier screening involve a short amplicon encompassing this mutation, this finding suggests that individuals with the c.1364C>A (p.A455E) mutation may require further investigation to avoid a false assignment of CF carrier status. |
| Databáze: |
Supplemental Index |
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