Comparative analysis on CTG repeat numbers with BAEP,SEP and VEP in myotonic dystrophy / 临床神经病学杂志

ABSTRACT

Objective To study the relationship between the changes of cytosine,thymine,guanine(CTG)repeat numbers and brain stem BAEP,SEP and VEP in patients with myotonic dystrophy(DM) and their family members.Methods The repeat numbers of CTG,BAEP, SEP and VEP of DM gene were determined by PCR amplification and DNA hybridization in 5 patients with DM and 16 members from 3 families.Results The repeat numbers of CTG in 10 normal persons were 30,BAEP,SEP and VEP were normal.The repeat numbers of CTG in 5 patients with DM were over 85,two cases of them were over 1605,they were significantly higher than the normal persons.4 cases in 16 family members were normal,CTG repeat numbers of 12 cases were over normal genes,CTG repeat numbers were related to clinical symptom, BAEP,SEP and VEP.Conclusion The gene diagnosis of DM was found to be consistent with its clinical symptom,the changes of BAEP,SEP and VEP.