【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。更多还原

【Abstract】 Objective To explore the genotype-phenotype correlation of facioscapulohumeral muscular dystrophy (FSHD) 1A gene. Methods Gene diagnosis using Southern blotting with the p13E-11 probe following EcoRⅠ-BlnⅠ 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 EcoRⅠ-BlnⅠ/p13E-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 EcoRⅠ-BlnⅠ/p13E-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 EcoRⅠ-BlnⅠ/ 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 EcoRⅠ-BlnⅠ/p13E-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.更多还原