GNAT1与常染色体隐性先天性静止夜盲症。
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Naeem MA Chavali VR,阿里年代,伊克巴尔M, Riazuddin年代,汗SN, Husnain T,筛选PA, Ayyagari R, Riazuddin年代,Hejtmancik摩根富林明,Riazuddin SA
GNAT1与常染色体隐性先天性静止夜盲症。
角膜切削Vis Sci投资。2012年3月13日,53 (3):1353 - 61。doi: 10.1167 / iovs.11 - 8026。打印2012年3月。
- PubMed ID
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22190596 (在PubMed]
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目的:先天性静止夜盲症是nonprogressive视网膜疾病表现为夜间视力受损,通常与其他眼部症状,如眼球震颤、近视、斜视。本研究进行了进一步探讨CSNB在巴基斯坦一个血缘家族的遗传基础。方法:一个血缘家庭与多个个体展现红衣主教症状的先天性静止夜盲症是确定的。所有家庭成员接受了详细的眼科检查,包括眼底照相检查和electroretinography。血液样本收集和提取基因组DNA。排斥和全基因组关联分析和两点LOD分数计算完成。GNAT1双向测序的完成,和定量GNAT1转录水平的表达了在眼部组织不同产后间隔。结果:眼科检查的结果暗示早发性静止没有眼外异常的夜盲症。全基因组扫描本地化关键间隔3号染色体区域p22.1-p14.3,最大的两点LOD得分为3.09,θ= 0,两侧标记D3S3522 D3S1289。随后,GNAT1错义突变,p。D129G, was identified, which segregated within the family, consistent with an autosomal recessive mode of inheritance, and was not present in 192 ethnically matched control chromosomes. Expression analysis suggested that Gnat1 is expressed at approximately postnatal day (P)7 and is predominantly expressed in the retina. CONCLUSIONS: These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness.