Research of the gene/genes associated with developmental hip displasia

Developmental dysplasia of the hip (DDH) is a common location abnormality of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through the moderate lateral displacement of the femoral head from the acetabulum. DDH, often bilateral, is more frequent in females than in males, with a ratio of 5:1. It mostly occurs as an isolated anomaly or as a component of the genetic syndromes or chromosomal disorders. The other factors affecting the frequency of the DDH are the geographic and the ethnic differences.In the literature, genetic inheritance pattern of the DDH was mostly reported as autosomal dominant and/or multifactorial, without a common addressed gene or genes related with this disease. In this project, we aimed to detect the candidate gene or genes accompanying the DDH disease by usage of linkage analysis. Two large family; a total of 16 patients and 15 healthy individuals, autosomal dominantly inherited with reduced penetrance, were studied. Three common reported susceptibility regions (4q32, 6q16 and 13q23) were screened. No linkage could be detected for these regions after the result of haplotype and two-point LOD score analysis.In this thesis, by using linkage analysis, the chromosomal regions reported until today related with DDH were excluded. As a genetic heterogene disorder DDH, could be related with new candidate gene or genes. Linkage analyses studies going on different candidate genes and the genome-wide screening analysis of the genome length based on the principle of random scan will help to evaluate the genetic origin of the disease.