Molecular identification of Tricula spp. and the parasitized trematode cercariae in schistosomiasis-endemic areas of Yunnan Province / 中国血吸虫病防治杂志

Objective To characterize a species of the genus Tricula and parasitized trematodes in schistosomiasis-endemic areas of Yunnan Province using a molecular analysis, so as to understand their taxonomic positions. Methods Tricula spp. and Oncomelania snails were collected from Xiangyun County, Yunnan Province, and cercaria parasitizing snails were observed using crushing followed by microscopy. Cercaria parasitizing Tricula snails at various morphologies were sampled using a shedding method. Genomic DNA was extracted from snail soft tissues and cercariae, and the 16S rRNA, COI, 28S rDNA genes in snails and the ND1 and 28S rDNA genes in cercariae were amplified using a PCR assay and sequenced. The species of Tricula snails and their parasitized trematodes was characterized using sequence alignment and phylogenetic analysis. Results Among 382 Tricula snails detected, there were three types of trematode cercariae found, including the non-forked (20.94%, 80/382), double-forked (3.40%, 13/382) and swallow shapes (7.07%, 27/382). Sequence and phylogenetic analyses showed that the 16S rRNA, COI and 28S rDNA gene sequences of this species of Tricula had high homology to those in Delavaya dianchiensis, and were clustered in a branch. Sequencing analysis of the ND1 and 28S rDNA genes revealed that the non-forked cercariae belonged to the family Pleu- rogenidae, the swallow-shaped cercariae belonged to the family Opecoelidae, and the double-forked cercariae belonged to another species of the genus Schistosoma that was different from S. sinensium and S. ovuncatum. Conclusion The species and taxonomy of Triculla spp. and their parasitized trematodes are preliminarily determined in schistosomiasis-endemic areas of Yunnan Province; however, further studies are required to investigate the more definite taxonomy and pathogenicity.

Mutation frequency analysis of mitochondrial ND1 gene associated with Leber hereditary optic neuropathy in Chinese population / 中华实验眼科杂志

Background Leber hereditary optic neuropathy (LHON)is a common inherited eye disease,which generally affects young adults with bilateral loss of central vision.Mutation frequency of Leber hereditary has not been fully clarified. Objective This study was to investigate the mutation frequency of mitochondrial NDI gene associated with LHON in Chinese population. Methods The proposal of the study was approved by Ethic Committee of Wenzhou Medical College.Written informed consent was obtained from each subject initial of this trial.Eight hundred and ninety-four LHON patients and 134 normal subjects were collected.Genomic DNA was extracted from peripheral blood leukocytes of the all participants.Polymerase chain reaction (PCR) was used to amplify and sequence analysis of the mitochondrial ND1 gene was performed and aligned with revised Cambridge Reference Sequence(rCRS) of mitochondrial DNA.Then mutated gene frequency was screened and analyzed. Results Mutational analysis of mitochondrial ND1 gene in 894 LHON patients revealed the presence of G3316A,T3394C,G3460A,C3497T,G3635A,G3733A,and T4216C.11.19％ LHON patients (100/894 ) were found to be associated with the gene mutations mentioned above,and 3.24％ patients (29/894) showed the co-occurrence of three primary mutations.Mutation frequencies in LHON patients were 2.57％,2.23％,1.45％,3.80％,0.67％,0.11％,0.34％,respectively,and G3316A,T3394C,C3497T and T4216C also were detected in 134 normal controls with the mutation frequencies of 4.48％,2.99％,4.48％ and 1.49％,respectively.Mutation frequency analysis showed an insignificant difference in the mutations of G3316A,T3394C,C3497T and T4216C between LHON patients and normal controls (x2 =0.926,P=0.336;x2 =0.052,P=0.820; x2 =0.142,P=0.707;P=0.129).G3376A,G3496T,G3700A,A4136G,T4160C and C4171A were absent in Chinese LHON patients. Conclusions Mitoehondrial ND1 gene in LHON is a mutational hotspot in Chinese population,11.19％ (100/894)associated with LHON was caused by ND1 gene mutation.G3635A,G3733A may be rare pathological mutation in Chinese population.However,G3316A,T3394C,C3497T and T4216C are insufficient to produce the clinical phenotype,but they may play a synergic role for penetrance and phenotypic manifestation in LHON.

Correlation analysis of polymorphisms in mtDNA 3243, 3316, 3394 point mutation with schizophrenia / 第二军医大学学报

Objective: To study the effects of mitochondrial DNA (mtDNA) point mutations 3243A/G, 3316G/A, and 3394T/C on the incidence of schizophrenia (SZ) in the Han nationality in Henan province. Methods A total of 250 unrelated patients and 292 normal controls without family history of schizophrenia were included in the present study, and their peripheral blood samples were subjected to examination by PCR, digestion with different restriction enzymes, agarose gel electrophoresis, and DNA sequencing to detect the mutations of mtDNA 3243, 3316, and 3394. Statistical analysis was performed by SPSS17. 0 statistic software. Results: mtDNA 3316 G/A mutation was found in 8 SZ patients and in 3 controls (P>0. 05). mtDNA 3394 mutation was found in 15 SZ patients and 4 controls, with significant difference between the two groups (P<0. 05). No mtDNA 3243 mutation was found in the two groups. Conclusion: The findings in the present study indicate that mutation of mtDNA 3394T/C may be related to SZ, and the mutation of mtDNA 3243A/G and 3316G/A may not be related to SZ.