ABSTRACT
OBJECTIVE: To investigate the association of two glucocorticoid receptor (GR) polymorphisms (BclI, ER22/23EK) with Myasthenia Gravis (MG). METHODS: The genotypes of GR in 61 MG patients (MGG) and 57 age and gender-matched healthy controls (HCG) were determined by polymerase chain reaction and nucleotide sequence determination. RESULTS: The frequencies of three genotypes (GG, CG, CC) in BclIwere 3.3%, 34.4%, 62.3% in MGG and 3.5%, 38.6%, 57.9%in HCG respectively. The difference in the distribution of genotypes between MGG and HCG was statistically insignificant (P = 0.887). The frequencies of G and C allele were 20.5% vs 79.5 %in MGG, and 22.8% vs 77.2% in HCG. The difference in the distribution of alleles between MGG and HCG was statistically insignificant (P = 0.968). The genotype frequencies in two groups were both in Hardy-Weinberg equilibrium (P > 0.05). The genotypes of ER22/23EK in MGG and HCG were all GG and no mutation was detected. CONCLUSION: BclI and ER22/23EK polymorphisms of GR have no definite relationship with the risk of MG.
Subject(s)
Myasthenia Gravis/genetics , Polymorphism, Single Nucleotide , Receptors, Glucocorticoid/genetics , Adult , Alleles , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Male , Middle AgedABSTRACT
OBJECTIVE: To investigate the usefulness of electromyogram (EMG) in the diagnosis of the patients with hemimasticatory spasm (HMS). METHODS: Four cases with HMS were reported. All the 4 patients were undertaken needle and surface electrode EMG examination. RESULTS: Needle electrode EMG of the 4 patients with HMS showed grouped potentials synchronously with the onset of the spasm, which indicated abnormal excitatory electrical activities of the trigeminal nerve resulting in involuntary masticatory muscle movements. CONCLUSION: It is very important to use EMG for the diagnosis of HMS.
Subject(s)
Masticatory Muscles/physiopathology , Spasm/physiopathology , Adult , Diagnosis, Differential , Electromyography , Female , Humans , Male , Middle Aged , Spasm/diagnosis , Spasm/etiologyABSTRACT
OBJECTIVE: Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO) belong to neurological diseases caused by a defect in the energy-producing system of mitochondria, and are known to be associated with a deletion in the mitochondrial genome. This study was aimed to understand with greater clearness the characteristics of mitochondrial DNA (mtDNA) mutations in 11 Chinese patients with CPEO (7 cases) or KSS (4 cases). METHODS: Densitometry of the bands on Southern blot, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing were performed to search large scale deletions and A3243G point mutation in patients' muscle mtDNA. RESULTS: Large deletions in mtDNA were detected in 2 CPEO and 3 KSS patients, the size of deletion ranged from 3.0 kb to 8.0 kb. Moreover, mtDNA A3243G point mutation was identified in 1 KSS patient. The proportion of mutant mtDNA was 37.6%-87.0%. Direct sequencing of the PCR products revealed 5 novel large deletions not reported by others. CONCLUSION: The findings in this study being consistent with the reports by others, large scale deletions of mtDNA are frequently found in Chinese patients with KSS and CPEO. mtDNA A3243G mutation may also exist in some patients with KSS and CPEO.
Subject(s)
DNA, Mitochondrial/genetics , Kearns-Sayre Syndrome/genetics , Ophthalmoplegia, Chronic Progressive External/genetics , Adolescent , Adult , Blotting, Southern , Child , DNA Mutational Analysis , DNA, Mitochondrial/chemistry , Female , Gene Deletion , Humans , Male , Middle Aged , Point Mutation , Polymerase Chain Reaction/methods , Polymorphism, Restriction Fragment LengthABSTRACT
OBJECTIVE: To observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD). METHODS: Genomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, it was hybridized with probe p13E-11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRI fragment was smaller than 38 kb. RESULTS: In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb. CONCLUSION: It was rather good to use <38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.
