[一个患Reis-Bucklers角膜营养不良的中国家系中TGFBI基因突变分析]
[Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy].
作者信息
Guan Tao, Zhang Lingjie, Xu Dejian, Wu Haijian, Zheng Libin
机构信息
Department of Ophthalmology, Taizhou Municipal Hospital, Taizhou, Zhejiang 318000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):629-632. doi: 10.3760/cma.j.issn.1003-9406.2017.05.001.
OBJECTIVE
To analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.
METHODS
Genomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination.
RESULTS
A heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type.
CONCLUSION
The R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.
目的
分析一个患Reis - Bucklers角膜营养不良的中国家系的临床特征及TGFBI基因突变情况。
方法
从该家系的53名成员（包括9名患者）中提取基因组DNA。通过聚合酶链反应（PCR）扩增TGFBI基因的17个外显子及内含子的剪接区域，并直接进行测序。对所有家系成员进行眼科检查。
结果
在该家系所有患者中，发现TGFBI基因第4外显子存在杂合突变（R124L）。在未患病的家系成员中未发现相同突变。该家系的遗传模式被确定为常染色体显性遗传，且该家系的Reis - Bucklers角膜营养不良被诊断为地图状类型。
结论
TGFBI基因的R124L突变可能是这个中国家系中Reis - Bucklers角膜营养不良发病机制的基础。分子遗传学方法有助于对这类角膜营养不良进行准确诊断。
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