Cobo A M, Poza J J, Blanco A, López de Munain A, Saénz A, Azpitarte M, Marchessi J, Martí Massó J F
Department of Neurology, Hospital Ntra Sra de Aránzazu, San Sebastián, Basque Country, Spain.
J Med Genet. 1996 Mar;33(3):221-3. doi: 10.1136/jmg.33.3.221.
DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract patients. A previous epidemiological study established a high prevalence of DM in the population of Guipúzcoa (Basque Country, Spain), 26.5 cases/100,000. We have found two carriers (0.9%) of the DM mutation in patients who are not related to any previously known DM family. The screening of the DM mutation in cataract patients should be restricted to young patients or people with multicoloured and iridescent opacities, in which the risk of carrying the DM premutation could be higher. Our results suggest that subjects with 38 to 80 repeats could constitute the genetic reservoir of the DM mutation.
对231例未经挑选的白内障患者的DNA样本进行研究，以确定白内障患者中DM突变的频率。先前的一项流行病学研究表明，在吉普斯夸省（西班牙巴斯克地区）的人群中，DM的患病率很高，为26.5例/100,000。我们在与任何已知的DM家族均无关联的患者中发现了两名DM突变携带者（0.9%）。对白内障患者进行DM突变筛查应限于年轻患者或具有彩色和虹彩样混浊的患者，这些患者携带DM前突变的风险可能更高。我们的结果表明，具有38至80个重复序列的个体可能构成DM突变的基因库。
