کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8849714 | 1618656 | 2018 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Autosomal single-gene disorders involved in human infertility
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم زیستی و بیوفناوری
علوم محیط زیست
بوم شناسی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Autosomal single-gene disorders involved in human infertility Autosomal single-gene disorders involved in human infertility](/preview/png/8849714.png)
چکیده انگلیسی
Human infertility, defined as the inability to conceive after 1â¯year of unprotected intercourse, is a healthcare problem that has a worldwide impact. Genetic causes of human infertility are manifold. In addition to the chromosomal aneuploidies and rearrangements, single-gene defects can interfere with human fertility. This paper provides a review of the most common autosomal recessive and autosomal dominant single-gene disorders involved in human infertility. The genes reviewed are CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1 and NR5A1 genes. These genes may be expressed throughout the hypothalamic-pituitary-gonadal-outflow tract axis, and the phenotype of affected individuals varies considerably from varying degrees of spermatogenic dysfunction leading to various degrees of reduced sperm parameters, through hypogonadotropic hypogonadism reslting in pubertal deficiencies, until gonadal dysgenesis and XY and XX sex reversal. Furthermore, congenital bilateral absence of the vas deferens, as well as premature ovarian failure, have been reported to be associated with some single-gene defects.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Saudi Journal of Biological Sciences - Volume 25, Issue 5, July 2018, Pages 881-887
Journal: Saudi Journal of Biological Sciences - Volume 25, Issue 5, July 2018, Pages 881-887
نویسندگان
Ines Jedidi, Mouna Ouchari, Qinan Yin,