ABSTRACT
PURPOSE: Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) is a widely accepted method for carrier detection of Duchenne and Becker muscular dystrophy (DMD and BMD) . This study was done to evaluate the clinical value of linkage analysis of RFLP-PCR using five polymorphic markers selected and the heterozygote frequency of those markers in DMD/BMD patients and their family members. MATERIALS AND METHODS: RFLP-PCR test was performed in twenty clinically diagnosed male DMD/BMD patients from 13 families who have been confirmed to have dystrophin gene defect from 1994 to 1997 and their 47 female family members and the results were evaluated by linkage analysis to detect carriers. RESULTS: The heterozygote frequency of pERT 87-15/XmnI, pERT87-15/BamHI, pERT87-8/TaqI, 5'-dysIII (CA) and 3'-dys (CA) markers were 55%, 49%, 45%, 32% and 26% respectively. Fourty-four (91%) out of 47 female family members had heterozygosity to at least one of those five markers. Since the obligate carriers from two families showed homozygocity to all five markers, carrier detection was possible in eleven families (85%) by the linkage analysis. CONCLUSION: RFLP-PCR using markers with high heterozygote frequency could be the first line modality of carrier detection that is crucial in genetic counseling of DMD/BMD patients and their families.
Subject(s)
Female , Humans , Male , Dystrophin , Genetic Counseling , Heterozygote , Muscular Dystrophy, DuchenneABSTRACT
PURPOSE: The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance rate with clinical diagnosis. MATERIALS AND METHODS: Fifty-two male patients who were clinically diagnosed as DMD or BMD (Duchenne or Becker muscular dystrophy) and received multiple-PCR from 1994 to 1997 at our center were included in this study. The relationship between clinical phenotype and the location of gene deletion were studied using reading-frame rule. Dystrophin protein analysis by immunocyto-chemical technique was done in 7 cases with negative multiplex-PCR. RESULTS: Out of fifty-two patients, thirty-four were DMD and eighteen as BMD clinically. Multiplex-PCR revealed dystrophin gene deletion in 19 patients (36%) consisting of twelve DMD and seven BMD cases. The locations of the gene deletion coincide with the clinical phenotype in 17 cases (89%). Among the 7 cases that underwent dystrophin protein analysis, 3 DMD and 2 BMD were confirmed. CONCLUSIONS: Though no substantial gene deletion detection rate was observed in this study, multiple-PCR could be used as a first-line diagnostic tool in detecting dystrophin gene deletion in DMD/BMD patients based on its high concordance rate with phenotype and favorable patient compliance and convenience.
Subject(s)
Humans , Male , Diagnosis , Dystrophin , Gene Deletion , Muscular Dystrophy, Duchenne , Patient Compliance , PhenotypeABSTRACT
Ranunculus tachiorei is a member of the buttercup family (Ranunculaceae) which contains unsaturated lactone and protoanemonine. Protoanemonine is formed by the breakdown of the glycoside Ranunculin after injury to the plant and causes severe vesiculation and linear streaks after contact with field buttercups(Ranunculus spp.) The amount of protoanemonine in buttercups varies widely with the species of plant and its stage of growth, the highest content being at the time of flowering. We report a case of primary irritant dermatitis due to contact with Ranunculus Tachiorei which was applied for the folk treatment of Bell palsy.
Subject(s)
Humans , Bell Palsy , Dermatitis, Irritant , Flowers , Plants , RanunculusABSTRACT
We report herein a case of pseudoxanthoma elasticum(PXE) in a 24 year old woman. She had a generalized laxity of the skin which tended to hang in folds along the sides of the trunk and in the axillary areas. There was no similar skin lesion in her family. Histopathological examination revealed clumping and fragmentation of the elastic fibers in the mid and lower dermis. Von Kossa stain showed dense deposition of calcium in these areas. We suspect this case as autosomal recessive type II PXE.