Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome.
Document Type
Article
Publication Date
2011
Keywords
Alstrom-Syndrome, Bardet-Biedl-Syndrome, DNA-Mutational-Analysis, DNA-Primers, Genetic-Testing, Haplotypes, Humans, Mutation, Oligonucleotide-Array-Sequence-Analysis, Polymorphism-Single-Nucleotide
JAX Location
see Reprint collection, a pdf is available.
JAX Source
Eur J Hum Genet 2011 Apr; 19(4):485-8.
First Page
485
Last Page
488
Abstract
Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alstrom syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heterogeneity of BBS with 14 causal genes described to date, serves to further complicate mutational analysis. The development of the BBS-ALMS array which detects known mutations in these genes has allowed us to detect at least one mutation in 40.5% of BBS families and in 26.7% of ALMS families validating this as an efficient and cost-effective first pass screening modality. Furthermore, using this method, we found two BBS families segregating three BBS alleles further supporting oligogenicity or modifier roles for additional mutations. We did not observe more than two mutations in any ALMS family.
Recommended Citation
Pereiro I,
Hoskins BE,
Marshall JD,
Collin GB,
Naggert JK,
Pineiro GT,
Oitmaa E,
Valverde D,
Beales PL.
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. Eur J Hum Genet 2011 Apr; 19(4):485-8.