Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes

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• 作者：Cindy Kok ; Marina L. Kennerson ; Simon J. Myers and Garth A. Nicholson
• 关键词：HSNI ; Cough ; Gastroesophageal reflux ; Genes ; Transcript map 3p
• 刊名：neurogenetics
• 出版年：2004
• 出版时间：September 2004
• 年：2004
• 卷：5
• 期：3
• 页码：197-200
• 全文大小：157 KB

文摘

Dominantly inherited sensory neuropathy (HSNI) is a degenerative disorder of sensory neurons characterized predominantly by sensory loss with mild motor impairment. Recently our group identified a locus on chromosome 3p for a new form of HSNI associated with cough and gastroesophageal reflux (GER). Haplotype analysis in a second family refined the interval to a 3.4-cM region that includes the candidate genes TOP2B and SLC4A7. The genes TOP2B and SLC4A7 and five other characterized genes that map within the critical interval have been investigated and excluded from having a pathogenic role in HSNI with cough and GER. Two novel single nucleotide polymorphisms were identified; however both changes were observed in affected and non-affected individuals, suggesting that they have no relation to the disease. We have used the resources of the Human Genome Project to report a transcript map of the region on chromosome 3p24 containing the HSNI with cough and GER locus.