کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5589632 | 1569809 | 2017 | 25 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing
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کلمات کلیدی
ADNSHLHHLCRISPRWEShsfNGSvesicular glutamate transporter 3VGlut3RFLPIHCsPTADNA - DNA یا اسید دزوکسی ریبونوکلئیکHearing loss - از دست دادن شنواییdeoxyribonucleic acid - اسید deoxyribonucleicHereditary hearing loss - افت شنوایی ارثیHuman Splicing Finder - انسداد انسانی انسانclustered regularly interspaced short palindromic repeats - به طور منظم تکرار پینگندرومی کوتاه مدت میان دو طرف تقسیم می شودNext-generation sequencing - تعیین توالی نسل بعدیWhole-exome sequencing - توالی کامل exomeSplicing mutation - جهش Splicinginner hair cells - سلول های موی درونیPure-tone audiometry - صدای سنجی خالصpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازrestriction fragment length polymorphism - پلی مورفیسم طول قطعه قطعهGene - ژن
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Hereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans. Because of this heterogeneity, the identification of the causative gene of HHL by linkage analysis or Sanger sequencing have shown economic and temporal limitations. With recent advances in next-generation sequencing (NGS) techniques, rapid identification of a causative gene via massively parallel sequencing is now possible. We recruited a Korean family with three generations exhibiting autosomal dominant inheritance of hearing loss (HL), and the clinical information about this family revealed that there are no other symptoms accompanied with HL. To identify a causative mutation of HL in this family, we performed whole-exome sequencing of 4 family members, 3 affected and an unaffected. As the result, A novel splicing mutation, c.763Â +Â 1GÂ >Â T, in the solute carrier family 17, member 8 (SLC17A8) gene was identified in the patients, and the genotypes of the mutation were co-segregated with the phenotype of HL. Additionally, this mutation was not detected in 100 Koreans with normal hearing. Via NGS, we detected a novel splicing mutation that might influence the hearing ability within the patients with autosomal dominant non-syndromic HL. Our data suggests that this technique is a powerful tool to discover causative genetic factors of HL and facilitate diagnoses of the primary cause of HHL.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 627, 5 September 2017, Pages 233-238
Journal: Gene - Volume 627, 5 September 2017, Pages 233-238
نویسندگان
Nari Ryu, Seokwon Lee, Hong-Joon Park, Byeonghyeon Lee, Tae-Jun Kwon, Jinwoong Bok, Chan Ik Park, Kyu-Yup Lee, Jeong-In Baek, Un-Kyung Kim,