佳学基因遗传病基因检测机构排名,三甲医院的选择

热门搜索
  • 癫痫
  • 精神分裂症
  • 鱼鳞病
  • 白癜风
  • 唇腭裂
  • 多指并指
  • 特发性震颤
  • 白化病
  • 色素失禁症
  • 狐臭
  • 斜视
  • 视网膜色素变性
  • 脊髓小脑萎缩
  • 软骨发育不全
  • 血友病

客服电话

在线咨询

CONSULTATION

一键分享

CLICK SHARING

返回顶部

BACK TO TOP

分享基因科技,实现人人健康!
×
查病因,阻遗传,哪里干?佳学基因准确有效服务好! 靶向用药怎么搞,佳学基因测基因,优化疗效 风险基因哪里测,佳学基因
当前位置:    基因检测联盟 > 检测产品 > 遗传病 > 眼科

【佳学基因检测】基因检测确定DHX38基因突变导致视网膜色素变性并明确是否遗传

根据眼底检查异常的基因检测如何阻断遗传,国际著名基因检测科学性证据杂志《. 2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期发表了一篇标题为《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因检测中的错义突变临床分析文章。该基因领域的临床应用研究由Saud Al-Johani, Abdulelah Alabdullah, Sawsan R Nowilaty 完成。

佳学基因检测】A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa


眼底检查异常的基因检测如何阻断遗传

根据眼底检查异常的基因检测如何阻断遗传,国际著名基因检测科学性证据杂志《. 2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期发表了一篇标题为《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因检测中的错义突变临床分析文章。该基因领域的临床应用研究由Saud Al-Johani, Abdulelah Alabdullah, Sawsan R Nowilaty 完成。


基因信息数据库索引号:

和. 2022 Apr 30;28(4):260-262.

基因解码研究关键词:

 DHX38; Gene mutation; renitis pigmentosa.


国际基因解码证据链条标签:


基因检测临床研究与应用结果介绍:

We present two cases of a novel missense variant mutation in the DHX38 gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Spectral-domain optical coherence tomography scans reveal losses of the outer retinal layer and the presence of subretinal fibrosis and thinning of the choroid. Molecular sequencing analysis of the DHX38 exome identified a novel missense mutation of the homozygous variant c. 2571 (p. Ala857=), which co-segregates with the autosomal recessive RP gene that encodes the premRNA splicing factor, PRP16. The aim of this report is to describe the clinical feature associated with this variant and to provide additional evidence that DHX38 is involved in RP. To the best of our knowledge, this variant has not been described in the literature.


眼底复杂病变的单一原因分析


 /uploads/zhibinjiyin/脆性X染色体综合征-致病基因鉴定.jpg

 
(责任编辑:佳学基因)
顶一下
(0)
0%
踩一下
(0)
0%
推荐内容:
来了,就说两句!
请自觉遵守互联网相关的政策法规,严禁发布色情、暴力、反动的言论。
评价:
表情:
用户名: 验证码: 点击我更换图片

Copyright © 2024-2034 国际基因检测联盟

设计制作 基因解码基因检测信息技术部