All authors declare no conflict of interests.
Carrier frequency of two BBS2 mutations in the Ashkenazi population
Article first published online: 28 JUL 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 6, pages 578–582, June 2014
How to Cite
Fedick, A., Jalas, C., Abeliovich, D., Krakinovsky, Y., Ekstein, J., Ekstein, A. and Treff, N.R. (2014), Carrier frequency of two BBS2 mutations in the Ashkenazi population. Clinical Genetics, 85: 578–582. doi: 10.1111/cge.12231
These authors contributed equally to the work.
- Issue published online: 26 APR 2014
- Article first published online: 28 JUL 2013
- Accepted manuscript online: 6 JUL 2013 08:50AM EST
- Manuscript Revised: 3 JUL 2013
- Manuscript Accepted: 3 JUL 2013
- Manuscript Received: 4 JUN 2013
- Bardet–Biedl syndrome;
- carrier frequency
Bardet–Biedl syndrome (BBS) is known to be caused by numerous mutations that occur in at least 15 of the BBS genes. As the disease follows an autosomal recessive pattern of inheritance, carrier screening can be performed for at-risk couples, but the number of potential mutation sites to screen can be daunting. Ethnic studies can help to narrow this range by highlighting mutations that are present at higher percentages in certain populations. In this article, the carrier frequency for two mutations that occur in the BBS2 gene, c.311A>C and c.1895G>C were studied in individuals of Ashkenazi Jewish descent in order to advise on including them in existing mutation panels for this population. Carrier screenings were performed on individuals from the Ashkenazi Jewish population using a combination of TaqMan genotyping assays followed by real-time polymerase chain reaction (PCR) and allelic discrimination, and allele-specific PCR confirmed by restriction analysis. The combined results indicated carrier frequencies of 0.473% (±0.0071%) for the c.311A>C mutation and 0.261% (±0.0064%) for the c.1895G>C mutation. On the basis of these frequencies, we believe that the two mutations should be considered for inclusion in screening panels for the Ashkenazi population.