کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5542988 | 1553929 | 2017 | 24 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY-negative) in pigs
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم زیستی و بیوفناوری
علوم کشاورزی و بیولوژیک
علوم دامی و جانورشناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY-negative) in pigs Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY-negative) in pigs](/preview/png/5542988.png)
چکیده انگلیسی
Testicular XX disorder of sex development (XX DSD, SRY-negative), causing sterility, is quite frequently diagnosed in pig populations, however, its molecular background is still unknown. This disorder may affect carcass quality (boar taint) due to the presence of testicular tissue in animals with ambiguous female external genitalia. A chromosome fragment encompassing the SOX9 gene was previously considered as a candidate region in functional and association studies. We analyzed distribution of polymorphic variants in 5'UTR and in 3'-flanking regions of the SOX9 gene in a cohort of 12 XX DSD pigs and a panel of 116 normal females. Altogether, 8 previously known polymorphic sites were analyzed and no significant association under Bonferroni correction (P>0.0063) between DSD phenotype and identified SNPs was found. The region harboring the SOX9 gene was also searched for the presence of copy number variation (CNV) by fluorescence in situ hybridization technique (FISH), using a set of 7 BAC probes. A potential CNV region, manifested by size variation (large and small) of fluorescence signals, produced by a single BAC probe hybridizing downstream (approx. 500Â kb) of the SOX9 gene, was observed in 4 DSD cases. We conclude, that a new CNV polymorphism in the region harboring SOX9 gene can be considered as a promising marker for the DSD phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Livestock Science - Volume 203, September 2017, Pages 48-53
Journal: Livestock Science - Volume 203, September 2017, Pages 48-53
نویسندگان
Monika Stachowiak, Izabela Szczerbal, Joanna Nowacka-Woszuk, Hanna Jackowiak, Pawel Sledzinski, Pawel Iskrzak, Stanislaw Dzimira, Marek Switonski,