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The Clinic for Special Children CSC has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite Plain children. Among the Plain people, we have used single nucleotide polymorphism SNP microarrays to genetically map recessive disorders to large autozygous haplotype blocks mean = 4.4 Mb that contain many genes mean = 79. For some, uninformative mapping or large gene lists preclude disease-gene identification by Sanger sequencing. Seven such conditions were selected for exome sequencing at the Broad Institute; all had been previously mapped at the CSC using low density SNP microarrays coupled with autozygosity and linkage analyses. Using between 1 and 5 patient samples per disorder, we identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. Our results reveal the power of coupling new genotyping technologies to population-specific genetic knowledge and robust clinical data.



Autor: Erik G. Puffenberger , Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassid

Fuente: http://plos.srce.hr/



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