کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8645224 | 1569777 | 2018 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family
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کلمات کلیدی
gnomADoligoasthenoteratozoospermiadbSNPWESExAC - Exacsperm motility - تحرک اسپرمintracytoplasmic sperm injection - تزریق اسپرم داخلسیتوپلاسمیsperm count - تعداد اسپرمWhole-exome sequencing - توالی کامل exomeOat - جو دو سرin-vitro fertilization - در لقاح آزمایشگاهیIn vitro fertilization - لقاح در خارج از بدن یا آیویافIVF - لقاح مصنوعی ICSI - میکرواینجکشنSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتیدExome Aggregation Consortium - کنسرسیوم جمع آوری امتحان
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family](/preview/png/8645224.png)
چکیده انگلیسی
Oligoasthenoteratozoospermia (OAT) is characterized as low sperm count, decreased sperm motility and structural abnormalities of the sperm head in the same patient. However, very few studies reported the genetic alterations associated with OAT. Here we report a 38-year-old patient with OAT from a consanguineous family, with 2-6â¯million/mL sperm density, 2.1-3.8% normal sperm morphology and immotile sperm. Whole-exome sequencing (WES) identified homozygous variant c.1259A>G:p.Y420C in the TDRD6 gene. TDRD6 is a testis-specific expressed protein that was localized to the chromatoid bodies in germ cells and played an important role in the nonsense-mediated decay pathway. This rare variant co-segregated with the OAT phenotype in this family. Bioinformatic analysis also suggested the variant a pathogenic mutation. Two intracytoplasmic sperm injection (ICSI) cycles were carried out in the patient's wife, but she did not become pregnant after embryo transfer. So the mutations in TDRD6 may be associated with human male infertility and early embryonic lethality.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 659, 15 June 2018, Pages 84-88
Journal: Gene - Volume 659, 15 June 2018, Pages 84-88
نویسندگان
Yan-Wei Sha, Xiong Wang, Zhi-Ying Su, Chengrong Wang, Zhi-Yong Ji, Li-Bin Mei, Ling Zhang, Bing-Bing Deng, Xian-Jing Huang, Wei Yan, Jie Chen, Ping Li, Yuan-qing Cui, Qing-Lan Qu, Chenghong Yin, Xue-Mei He,