Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)
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چکیده
منابع مشابه
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Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملReply: Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure
(Shelling, 2000). Of interest is the lower copy number detection rate in our study (4%) compared with the detection rate of 48% in the recent publication by Quilter et al. (2010). Quilter et al. report that one of the 15 women with a CNV had primary amenorrhea. Possibilities to explain the differences in detection rate compared with this study may be differences in the age of onset of POF, or t...
متن کاملArray comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure.
Some of the limits of our study were already mentioned in our original paper, but they are clarified in this letter better. Overall, we thus just thank the authors for their precious and constructive comments. Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure Sir, Evidence suggests that ...
متن کاملI-41: Genetic Causes of Premature Ovarian Failure (POF) and early Menopause
Premature ovarian failure (POF) is a heterogeneous disorder, defined as menopause under age 40 years. The prevalence is 1%; POF before age 30 years is much less common. Chromosomal causes have long been recognized - visible deletions of the X chromosome, 45,X/46,XX mosaicism, and autosomal rearrangements (balanced translocations). Toxins or iatrogenic causes (e.g., chemotherapeutic agents) are ...
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Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis. We applied computational and droplet digital PCR approaches to measure rDNA co...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2010
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/deq158