AccessMyLibrary provides FREE access to over 30 million articles from top publications available through your library.
Create a link to this page
Copy and paste this link tag into your Web page or blog:
According to a study from the United States, "A single large family, in which adolescent idiopathic scoliosis (AIS) and pectus excavatum (PE) segregate as an autosomal dominant condition, was evaluated. Genome-wide linkage analysis and candidate gene sequencing were performed."
"To map the disease-causing locus in a large white family in which AIS and PE cosegregate. AIS and PE are common musculoskeletal conditions known to have a genetic component, though few genes have been identified for either. Genetic studies have been confounded by a lack of large families in which the disorders segregate. Clinical examinations were performed on the proband, who underwent posterior spinal fusion, and 12 additional affected family members. To map a gene causing AIS and PE, a genome-wide linkage analysis was performed with the Affymetrix Mapping 10 K XbaI array on 13 affected and 10 unaffected family members. Candidate genes were sequenced. AIS was present in 13 female family members and PE was present in 3 males and 1 female. Genome-wide linkage analysis resulted in a linkage peak on chromosome 18 q with a maximum parametric multipoint logarithm of the odds score of 3.86. Recombinants delineated the critical genetic region to an interval of 6.4 cM between SNP_A-1519369 and SNP_A-1507702, corresponding to a 7.06-Mb region (hg18: chr18:26342508-34395660). The chromosome 18 q linkage region contains more than 30 genes. Resequencing of the coding regions of ...
Source: HighBeam Research, Study results from Washington University, Medical Department broaden...