鉴定染色体 3q13.2-3q13.33 上的常染色体隐性口吃基因座。
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.
机构信息
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.
出版信息
Hum Genet. 2010 Oct;128(4):461-3. doi: 10.1007/s00439-010-0871-y. Epub 2010 Aug 13.
Abstract
Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan in this family using parametric linkage analysis revealed significant linkage only on chromosome 3q13.2-3q13.33, with a maximum two-point LOD score of 4.23 under an autosomal recessive model of inheritance.
摘要
口吃是一种常见的言语障碍，具有很大的遗传贡献。为了更好地了解口吃涉及的遗传因素，我们对一个来自巴基斯坦的新确认的近亲口吃家庭进行了全基因组连锁研究。在这个家庭中，使用参数连锁分析进行连锁扫描，仅在 3q13.2-3q13.33 染色体上显示出显著的连锁，在常染色体隐性遗传模式下，最大两点 LOD 得分为 4.23。
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