面肩肱型肌营养不良症1A的基因型与表型关系研究  

Genotype-phenotype correlation in facioscapulohumeral muscular dystrophy 1A gene

作　　者：苏全喜[1] 申本昌[2] 曾缨[2] 谢有梅 王展航[4] 刘晓蓉[5] 李婉仪[2] 张成[2] 

机构地区：[1]广东药学院附属第一医院神经内科,广州510080 [2]中山大学附属第一医院神经科,广州510080 [3]美国NorthCarolina大学神经科,nc27695 [4]广州中医药大学附属祈福医院脑病中心,广州511495 [5]广州医学院第二附属医院神经内科,广州510260

出　　处：《中华神经医学杂志》2006年第2期117-119,共3页Chinese Journal of Neuromedicine

基　　金：广东省自然科学基金(31693);卫生部临床学科重点项目基金(2001321);中国博士后科学基金(2005037172)

摘　　要：目的探讨面肩肱型肌营养不良症(FSHD)1A的基因型与临床表型之间的相关关系。方法对来自33个无关家系的50名临床诊断FSHD的患者进行EcoRⅠ+BlnⅠ双酶切基因诊断以及临床表型评分,应用Spearman秩相关方法分析FSHD1A基因诊断的EcoRⅠ+BlnⅠ/p13E-11DNA片段大小与临床表型评分之间的相关性。结果50名FSHD患者的基因诊断结果为EcoRⅠ+BlnⅠ/p13E-11DNA片段大小介于10￣33.5kb,平均(17.70±6.628)kb,其中同一家系中不同患者的基因诊断结果相同。对33个家系各取一名患者的基因诊断结果与临床表型评分做相关分析,R=-0.34,P=0.03。校正控制年龄因素后做偏相关分析,R=-0.3775,P=0.017。结论EcoRⅠ+BlnⅠ/p13E-11DNA片段大小与FSHD1A的临床表型之间具有负相关性,它在判断FSHD1A病情预后以及遗传咨询方面具有重要参考价值。Objective To explore the genotype-phenotype correlation of facioscapulohumeral muscular dystrophy （FSHD） 1A gene. Methods Gene diagnosis using Southern blotting with the pl3E-11 probe following EcoR I -Bln I double enzyme digestion was performed in 50 cases of FSHD patients who belonged to 33 unrelated families, comprising 38 familial and 12 sporadic cases. The 10-grade clinical severity scale was adopted. The correlation between EcoR I -Bln I /pl3E-11 fragment size and clinical severity scale was tested by Spearman＇s rank correlation test. Results The results of gene diagnosis in 50 cases of FSHD patients were that the EcoR I -Bin I/pl3E-11 fragment size ranged 10-33.5 kb [mean （17.70±6.628） kb]. Different patients belonging to the same family had the same result of gene diagnosis. Only 1 patient was chosen from 1 family and the correlation coefficient between EcoR I -Bln I / 13E-11 fragment size and clinical severity scale among 33 FSHD families was -0.34 （P=0.03）. After calibration control of age factor, the partial correlation coefficient was -0.3775 （P=0.017）. Conclusion The EcoR I -Bln I/pl3E-11 fragment size is negatively correlated with FSHD 1A clinical severity. It is a major factor in determining the FSHD 1A clinical severity and has an impact on clinical prognosis and genetic counseling of the disease.

关 键 词：面肩肱型肌营养不良症 基因诊断 基因型-表型关系 

分 类 号：R746.2[医药卫生—神经病学与精神病学]