Ma Xiaoye, Wei Ruili, Cai Jiping, Zhu Li
Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.
Zhonghua Yan Ke Za Zhi. 2002 Nov;38(11):680-3.
To report the localization of a gene for an autosomal dominant retinitis pigmentosa (ADRP) family.
We studied a large ADRP family, collected 3 - 5 ml of venous blood samples from some family members, and genomic DNA was extracted from the blood. Then two-point linkage analysis between the known markers and the disease locus was performed.
Linkage analysis showed the maximum LOD score reaches 2.732852 at marker D3S1292 (at recombination fraction theta = 0.1).
Since D3S1292 was localized at 3q21, we roughly localized the disease gene on 3q21. In the mean time, the rhodopsin gene had been reported as linked to 3q21 adjacent to D3S1292, thus we think the disease gene may be the rhodopsin gene.
报道一个常染色体显性遗传性视网膜色素变性（ADRP）家系的致病基因定位。
我们研究了一个大的ADRP家系，采集了部分家系成员3 - 5毫升静脉血样本，从血液中提取基因组DNA。然后对已知标记与疾病位点进行两点连锁分析。
连锁分析显示在标记D3S1292处（重组率θ = 0.1）最大对数优势（LOD）分数达到2.732852。
由于D3S1292定位于3q21，我们大致将致病基因定位在3q21。同时，已报道视紫红质基因与D3S1292相邻的3q21连锁，因此我们认为致病基因可能是视紫红质基因。
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