Carrier frequency of two BBS2 mutations in the Ashkenazi population

Authors

  • A. Fedick,

    Corresponding author
    1. Department of Microbiology and Molecular Genetics, UMDNJ-Robert Wood Johnson Medical School, Piscataway, NJ, USA
    2. Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA
    • Corresponding author: Anastasia Fedick, 140 Allen Road, Basking Ridge, NJ 07920, USA.

      Tel.: +1 973 871 1257;

      fax: +1 973 290 8370;

      e-mail: afedick@rmanj.com

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    • All authors declare no conflict of interests.
  • C. Jalas,

    1. Center for Rare Jewish Genetic Disorders, Brooklyn, NY, USA
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    • All authors declare no conflict of interests.
  • D. Abeliovich,

    1. Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel
    2. Mogen Body Laboratory LTD, Jerusalem, Israel
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  • Y. Krakinovsky,

    1. Mogen Body Laboratory LTD, Jerusalem, Israel
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  • J. Ekstein,

    1. Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel
    2. Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY, USA
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  • A. Ekstein,

    1. Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel
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  • N.R. Treff

    1. Department of Microbiology and Molecular Genetics, UMDNJ-Robert Wood Johnson Medical School, Piscataway, NJ, USA
    2. Reproductive Medicine Associates of New Jersey, Basking Ridge, NJ, USA
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  • These authors contributed equally to the work.

Abstract

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.

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