ABSTRACT
Objective To identify the genetic variation and possible sources of Thelazia callipaeda isolates collected from pa-tients in Zunyi City,Guizhou Province. Methods Seven cases of T. callipaeda infection in Zunyi City,2016 were verified, and DNA(s)were extracted from the T. callipaeda's body collected from the thelaziasis patients. A mitochondrial COX1 frag-ment was amplified and sequenced. The sequence alignment and phylogenetical analysis were performed to compare the genetic variation of the gene sequence with the homologous sequences downloaded from Genebank. Results COX1 genes of T. callipae-da were differed among the samples from the seven cases,which had low variation. Conclusion Zunyi City is a new area with endemic of thelaziasis. The isolates from Zunyi City include either Asian origin or European origin of T. callipaeda. Moreover,at least four haplotypes are identified among the seven isolates.
ABSTRACT
<p><b>OBJECTIVE</b>Two genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM.</p><p><b>METHODS</b>In twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning.</p><p><b>RESULTS</b>The numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family.</p><p><b>CONCLUSION</b>There might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.</p>