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目的 观察强直性肌营养不良（ＤＭ）临床典型或可疑的患者并符合分子诊断标准的２５例患者中白 内障发病率、特点及与强直性肌营养不良蛋白激酶（ＭＴＰＫ）基因中 ＣＴＧ三核苷酸（Ｃ－胞嘧啶、Ｔ－胸腺嘧啶、Ｇ－乌嘌 呤）重复次数的关系。方法 裂隙灯检查受检者晶状体情况，长模板扩增ＴＭＰＣＲ法检测１９ｑ１３．２－３位点上蛋白激酶 基因（ＭＴＰＫ）３·端非翻译区上 ＣＴＧ三核苷酸重复次数，并比较白内障与ＣＴＧ重复次数的关系。结果 １３例临床 典型的ＤＭ患者及另１３例可疑ＤＭ个体中１２例从临床及分子诊断方面皆确诊为ＤＭ ，患者，其中１７例双眼对称 性白内障（６８％），主要为点状及兰色点状白内障。１７例有白内障的ＤＭ患者中，其中７例白内障是ＤＭ的唯一临床 体征，他们的ＣＴＧ重复次数均高于ＣＴＧ正常值，符合ＤＭ分子诊断标准，这７例中１例ＣＴ重复次数异常早于白 内障的发生。结论 ＤＭ的白内障发病率较高，在ＤＭ家系中，当白内障是ＤＭ唯一临床体征时，分子检测有直接 诊断ＤＭ的作用。
Objective To investigate the incidence and characteristics of cataract in 25 patients with idiopathic muscular dystrophy (DM) who are clinically typical or suspicious and who meet the molecular diagnostic criteria and their correlations with CTG trinucleotides in patients with myotonic dystrophy protein kinase (MTPK) (C-cytosine, T-thymidine, G-guanine) the number of repetitions of the relationship. Methods Slit lamp was used to examine the lens of the subject. TMPCR method was used to detect the number of CTG trinucleotide repeats in the 3-terminal untranslated region of protein kinase gene (MTPK) at 19q13.2-3. CTG repeat the relationship between the number. Results Thirteen patients with DM and 13 patients with suspected DM were diagnosed as DM with clinical and molecular diagnosis. Among them, 17 eyes (68%) had binocular symmetry, which were mainly dot and blue Punctate cataracts. Among the 17 patients with cataract, 7 of them were the only clinical signs of DM. Their CTG repetitions were all higher than the normal values of CTG and were consistent with the diagnostic criteria of DM. One of 7 cases of CT was abnormally earlier than the other Occurrence of cataracts. Conclusions The incidence of cataract in DM is high. In DM pedigrees, when cataract is the only clinical sign of DM, molecular detection can directly diagnose DM.