Zhang Xiao-hui, Dong Bing, Yan Wei-yu, Shan Ming-hua, Li Yang
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):670-3.
To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP).
Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly.
Two-point LOD scores were negative with all markers tested except D17S701 (Zmax=2.107, theta=0) and D17S1604 (Zmax=1.806, theta=0). The disease gene locus was confined to RP17 with further genetic linkage and haplotype analysis. Screening all exons including exon-intron boundary, 5oUTR and 3oUTR of carbonic anhydrase 4 (CA4) revealed no mutation in this family.
The disease-causing gene of one Chinese family with adRP was first mapped to RP17, however no gene mutation of CA4 was detected in this family. Maybe there is a complex CA4 gene mutation in this family or a new disease-causing gene for this family in this locus, further study need to be done.
阐明一个常染色体显性遗传性视网膜色素变性（adRP）中国家系的致病基因及突变情况。
采用一组多态性标记对已知的adRP基因位点进行遗传连锁分析，然后对候选基因的所有外显子（包括外显子 - 内含子边界、5'UTR和3'UTR）进行直接测序。
除D17S701（Zmax = 2.107，theta = 0）和D17S1604（Zmax = 1.806，theta = 0）外，所有检测标记的两点LOD值均为阴性。通过进一步的遗传连锁和单倍型分析，疾病基因位点被限定在RP17。对碳酸酐酶4（CA4）的所有外显子（包括外显子 - 内含子边界、5'UTR和3'UTR）进行筛查，发现该家系中无突变。
一个中国adRP家系的致病基因首次被定位到RP17，但该家系中未检测到CA4基因突变。可能该家系存在复杂的CA4基因突变或该位点存在新的致病基因，有待进一步研究。
