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| Status |
Public on Aug 18, 2016 |
| Title |
Affymetrix SNP array data for ovarian dysgenesis samples |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
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| Summary |
Ovarian development and maintenance are poorly understood, but diseases affecting them can offer insights into their underlying mechanisms. XX-female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by underdeveloped, dysfunctional ovaries with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. We used SNP arrays to perform homozygosity mapping in order to detect informative genomic regions which are homozygous and shared among affected individuals. This analysis identified genomic regions in which the mutated gene causing the XX-GD phenotype in the affected individuals may reside.
Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples.
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| Overall design |
Homozygosity mapping of Affymetrix 250K SNP arrays was performed for 2 female cousins affected with XX-Ovarian dysgenesis.
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| Contributor(s) |
Zeligson S, Levy-Lahad E, Renbaum P, Zangen D, Weinberg-Shukron A |
| Citation(s) |
26485283 |
| |
| Submission date |
Aug 18, 2015 |
| Last update date |
May 17, 2017 |
| Contact name |
Ephrat Levy-Lahad |
| Organization name |
Shaare Zedek Medical Center
|
| Street address |
Shmu'el Bait 12
|
| City |
Jerusalem |
| ZIP/Postal code |
9103102 |
| Country |
Israel |
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| Platforms (1) |
| GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA293217 |
