Nhiễm sắc thể PCOS nhạy cảm locus (D19S884) Chúng tôi đã sử dụng thử nghiệm cho gia đình dựa trên mối liên kết, liên kết để xác định các gen nhạy cảm PCOS. Trong màn hình đầu tiên của 37 gen ứng cử viên PCOS trong 150 gia đình, bằng chứng mạnh nhất cho hiệp hội | Genetic Analyses of PCOS 75 In summary variation in the AR CAG repeat length may be important in the etiology of PCOS and gradually light is being shed on possible explanations for the contradictory results of previous studies. Further studies in larger cohorts are needed to confirm the importance of variation in the AR to the etiology of PCOS. . Chromosome PCOS susceptibility locus D19S884 We have used family-based test for linkage and association to identify PCOS susceptibility genes. In an initial screen of 37 PCOS candidate genes in 150 families the strongest evidence for association occurred with D19S884 33 . D19S884 is a dinucleotide repeat polymorphism that maps 800 kb centromeric to the insulin receptor INSR on chromosome . This marker was originally selected to assess linkage between the PCOS candidate gene INSR and PCOS and is located too far from INSR to be considered a suitable marker for association with INSR as 800 kb exceeds the usual distance over which linkage disequilibrium the biological basis for allelic association is maintained. It is therefore unlikely that this variant is directly associated with genetic variation within the candidate gene INSR itself and that the association that we observe in our families with D19S884 is due to a variant outside of the INSR per se. Further characterization of this region with 18 additional markers and 217 additional families replicated the original findings and found that the strongest evidence for association is still with allele 8 A8 of D19S884 94 . Secondly in the complete cohort of 367 families the region of containing D19S884 also has the strongest evidence for linkage to PCOS of any of the 33 candidate gene regions tested in our families 94 . We therefore concluded that D19S884 or a very closely linked marker is the most likely PCOS susceptibility locus mapping to chromosome . In support of our conclusions are the findings in our data and the HAPMAP and Perlegen .
