Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics<\/link> at the University Hospital Jena<\/link>, Germany, used a number of different methods, including Roche\u2019s NimbleGen Custom Sequence Capture 385K array to identify the gene mutated in the disease locus of the X-chromosome of a Spanish family with hereditary hearing loss [1]. <\/p>\n
Targeted enrichment was performed by the German Service Provider ATLAS Biolabs<\/link> GmbH. In particular, the DNA of two affected males was subjected to target enrichment. Subsequent sequencing analysis at the Cologne Center for Genomics (CCG) resulted in the identification of a total of 3858 and 3443 X-chromosomal variants for each of these two individuals. Furthermore, a nonsense mutation in the small muscle protein, X-linked (SMPX)<\/em> of the affected individuals had been detected. Nonsense mutations are significant, because they are point mutation<\/link>s in a sequence<\/link> of DNA<\/link> that cause a premature stop codon<\/link>, or a nonsense codon in the transcribed<\/link> mRNA<\/link>, resulting in a truncated<\/link>, incomplete, and usually nonfunctional protein<\/link>. Based on their findings, the authors propose that long-term maintenance of mechanically stressed inner ear cells critically depends on SMPX function.<\/p>\n The NimbleGen Sequence Capture technology<\/link> is a sophisticated process for the parallel enrichment of selected genomic regions from complex human genomic DNA. Sequence Capture allows enrichment of target regions in a single experiment, replacing the need to perform numerous PCR reactions. The efficiencies of parallel enrichment are an ideal complement for cost-effective, high throughput next-generation sequencing. <\/p>\n [1] Huebner et al<\/em>. American <\/strong>Journal of Human Genetics, Vol. 88: 621-627, May 13, 2011.<\/p>\n www.roche.com<\/link>\n For life science research only. Not for use in diagnostic procedures. Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics at the University Hospital Jena, Germany, used a number of different methods, including Roche\u2019s NimbleGen Custom Sequence Capture 385K array to identify the gene mutated in the disease locus of […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/2169"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=2169"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/2169\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=2169"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=2169"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=2169"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
NIMBLEGEN and SEQCAP are trademarks of Roche.
Other brands or product names are trademarks of their respective holders.<\/sub><\/p>\n","protected":false},"excerpt":{"rendered":"