视网膜色素变性遗传学研究与相关基因定位克隆

Retinitis pigmentosa is a common and blindness could be condused genetic disease in clinic of ophthalmology . There are 1.5 million patients on the world, 400 thousands patients in our country. There are 1.6 million blindness in our country, 1/4 of them arised from retinitis pigmentosa. The most of patients started their night blindness at young age, with progressive constriction of the peripheral visual field, becomes tubular visual field later, and finally becomes complete blindness or only optic perceptible. There are about 30 genes are related to the RP we know from the research in the last years, about more than harf of them have cloned and it's mutations have also been determined, each mutation of every gene can make RP and it is very similar in clinic, so that the eye doctor is difficult to identify. We already know that the pathological mechanism for all RP is apoptosis of the cone and rod cell. There is no any effective methods for RP up to now, but several methods are in the exploration such as transplantation of retina or retina cell, gene therapy, Chinese medicine, regulation of apoptosis of retina cell, electronic chip retina, electronic image and sight conversion. All of above are in research.we are researching on the localization and cloning of RP gene which did not identified, the new RP26 gene have located at a region of 3.9 cM between D2S148-D2S2366 at chromosome 2, no related mutation has been found in this region. We try to find some small molecule which can enter the retina cell and can minus regulate the apoptosis, it maybe a method for therapy of RP. A series of inorganic ions and small organic molecules have been detected but no valuable result obtained. To know the molecula mechanism of RP, the normal and mutant RP2 gene was cloned and expressed in E.coli and parcial purified. The structure studies to be performed

疾病相关基因克隆是人类基因组研究中被特别重视的课题。视网膜色素变性是我国常见致盲眼遗传病。我国有盲人400万，RP患者可能占1/5。该病为多个基因相关的单基因病。临床上难以区分。已发现有27个位点相关。大部尚未被克隆。我们拟对上海市RP患者进行系统家系分析和突变检测，以求发现并定位新的RP基因，并进而鉴定何克隆该基因，为RP病理机制和治疗研究打下基础。