Horizontal starch gel electrophoresis was used to investigate the genetic structure of six populations of Ruditapes philippinarum in the coast of China. Seven enzymes revealed eleven putative loci, and seven of them w...Horizontal starch gel electrophoresis was used to investigate the genetic structure of six populations of Ruditapes philippinarum in the coast of China. Seven enzymes revealed eleven putative loci, and seven of them were polymorphic, PGM^*, MDH-1^ *, MDH-3^*, LAP-1^*, LAP-2^*, MPI-1^* and MPI-2^*. The proportions of polymorphic loci of R. philippinarum populations varied from 0.454 5 to 0.636 4. The values of observed and expected heterozygosities were from 0.039 4 to 0.154 5 and from 0.111 1 to 0.238 5, respectively. Nei's genetic distance varied from 0.003 3 to 0.025 3 with an average of 0.013 5. It is suggested that the genetic diversity of R. philippinarum was high.展开更多
Horizontal starch gel electrophoresis was used to investigate the biochemical genetic structure of Chinese mitten crab Eriocheir sinensis and Hepu mitten crab E.hepuensis. Sixteen putative enzyme-coding loci were exam...Horizontal starch gel electrophoresis was used to investigate the biochemical genetic structure of Chinese mitten crab Eriocheir sinensis and Hepu mitten crab E.hepuensis. Sixteen putative enzyme-coding loci were examined for forty-nine Chinese mitten crabs and thirty-eight Hepu mitten crabs. Nine loci, AAT-1 *, AAT-2 *, G3PDH *, GPI *, IDHP-1 *, IDHP-2 *, MDH-1 *, MDH-2 * and PGM *, are polymorphic in Chinese mitten crab, and seven, AAT-1 *, AAT-2 *, GPI *, IDHP-1 *, MDH-1 *, MDH-2 * and PGM *, are polymorphic in Hepu mitten crab. The proportion of polymorphic loci and the expected heterozygosity are 0.562 5 and 0.080 3 for Chinese mitten crab, and 0.437 5 and 0.075 4 for Hepu mitten crab. The Nei’s genetic distance between two species is 0.002 4.展开更多
OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for h...OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.展开更多
Objective: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study we identified the underlying genetic defect in a Chinese family with ARS. Methods: A detailed family history...Objective: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study we identified the underlying genetic defect in a Chinese family with ARS. Methods: A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from peripheral blood leukocytes. All coding exons and intron-exon junctions of paired-like homeodomain transcription factor 2 (PITX2) gene and the forkhead box C1 (FOXC1) gene were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Variations detected in exon 5 of PITX2 were further evaluated with cloning sequencing. The exon 5 of PITX2 was also sequenced in 100 healthy controls, unrelated to the family, for comparison. Structural models of the wild type and mutant homeodomain of PITX2 were investigated by SWISS-MODEL. Results: Affected individuals exhibited variable ocular phenotypes, whereas the systemic anomalies were similar. After direct sequencing and cloning sequencing, a heterozygous deletion/insertion mutation c. 198_201delinsTTTCT (p.M661fs*133) was revealed in exon 5 of PITX2. This mutation co-segregated with all affected individuals in the family and was not found either in unaffected family members or in 100 unrelated controls. Conclusions: We detected a novel frameshift mutation p.M661fs*133 in PITX2 in a Chinese family with ARS. Although PITX2 mutations and polymorphisms have been re- ported from various ethnic groups, we report for the first time the identification of a novel deletion/insertion mutation that causes frameshift mutation in the homeodomain of PITX2 protein.展开更多
Long-term meteorological observation series are fundamental for reflecting climate changes.However,almost all meteorological stations inevitably undergo relocation or changes in observation instruments,rules,and metho...Long-term meteorological observation series are fundamental for reflecting climate changes.However,almost all meteorological stations inevitably undergo relocation or changes in observation instruments,rules,and methods,which can result in systematic biases in the observation series for corresponding periods.Homogenization is a technique for adjusting these biases in order to assess the true trends in the time series.In recent years,homogenization has shifted its focus from the adjustments to climate mean status to the adjustments to information about climate extremes or extreme weather.Using case analyses of ideal and actual climate series,here we demonstrate the basic idea of homogenization,introduce new understanding obtained from recent studies of homogenization of climate series in China,and raise issues for further studies in this field,especially with regards to climate extremes,uncertainty of the statistical adjustments,and biased physical relationships among different climate variables due to adjustments in single variable series.展开更多
文摘Horizontal starch gel electrophoresis was used to investigate the genetic structure of six populations of Ruditapes philippinarum in the coast of China. Seven enzymes revealed eleven putative loci, and seven of them were polymorphic, PGM^*, MDH-1^ *, MDH-3^*, LAP-1^*, LAP-2^*, MPI-1^* and MPI-2^*. The proportions of polymorphic loci of R. philippinarum populations varied from 0.454 5 to 0.636 4. The values of observed and expected heterozygosities were from 0.039 4 to 0.154 5 and from 0.111 1 to 0.238 5, respectively. Nei's genetic distance varied from 0.003 3 to 0.025 3 with an average of 0.013 5. It is suggested that the genetic diversity of R. philippinarum was high.
文摘Horizontal starch gel electrophoresis was used to investigate the biochemical genetic structure of Chinese mitten crab Eriocheir sinensis and Hepu mitten crab E.hepuensis. Sixteen putative enzyme-coding loci were examined for forty-nine Chinese mitten crabs and thirty-eight Hepu mitten crabs. Nine loci, AAT-1 *, AAT-2 *, G3PDH *, GPI *, IDHP-1 *, IDHP-2 *, MDH-1 *, MDH-2 * and PGM *, are polymorphic in Chinese mitten crab, and seven, AAT-1 *, AAT-2 *, GPI *, IDHP-1 *, MDH-1 *, MDH-2 * and PGM *, are polymorphic in Hepu mitten crab. The proportion of polymorphic loci and the expected heterozygosity are 0.562 5 and 0.080 3 for Chinese mitten crab, and 0.437 5 and 0.075 4 for Hepu mitten crab. The Nei’s genetic distance between two species is 0.002 4.
基金This work was supported by a grant from the National Natural Science Foundation of China(No.30772321)
文摘OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.
基金Project supported by the Qianjiang Talents Project of Zhejiang Province(No.2010R10067)the Zhejiang Key Innovation Team Project of China(No.2009R50039)the Zhejiang Key Laboratory Foundation of China(No.2011E10006)
文摘Objective: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study we identified the underlying genetic defect in a Chinese family with ARS. Methods: A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from peripheral blood leukocytes. All coding exons and intron-exon junctions of paired-like homeodomain transcription factor 2 (PITX2) gene and the forkhead box C1 (FOXC1) gene were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Variations detected in exon 5 of PITX2 were further evaluated with cloning sequencing. The exon 5 of PITX2 was also sequenced in 100 healthy controls, unrelated to the family, for comparison. Structural models of the wild type and mutant homeodomain of PITX2 were investigated by SWISS-MODEL. Results: Affected individuals exhibited variable ocular phenotypes, whereas the systemic anomalies were similar. After direct sequencing and cloning sequencing, a heterozygous deletion/insertion mutation c. 198_201delinsTTTCT (p.M661fs*133) was revealed in exon 5 of PITX2. This mutation co-segregated with all affected individuals in the family and was not found either in unaffected family members or in 100 unrelated controls. Conclusions: We detected a novel frameshift mutation p.M661fs*133 in PITX2 in a Chinese family with ARS. Although PITX2 mutations and polymorphisms have been re- ported from various ethnic groups, we report for the first time the identification of a novel deletion/insertion mutation that causes frameshift mutation in the homeodomain of PITX2 protein.
基金supported by the Strategic Priority Research Program of the Chinese Academy of Sciences(Grant No.XDA05090105)the R&D Special Fund for Public Welfare Industry(Meteorology)(Grant No.GYHY201206013)the National Key Technology R&D program(Grant No.2012BAC22B04)
文摘Long-term meteorological observation series are fundamental for reflecting climate changes.However,almost all meteorological stations inevitably undergo relocation or changes in observation instruments,rules,and methods,which can result in systematic biases in the observation series for corresponding periods.Homogenization is a technique for adjusting these biases in order to assess the true trends in the time series.In recent years,homogenization has shifted its focus from the adjustments to climate mean status to the adjustments to information about climate extremes or extreme weather.Using case analyses of ideal and actual climate series,here we demonstrate the basic idea of homogenization,introduce new understanding obtained from recent studies of homogenization of climate series in China,and raise issues for further studies in this field,especially with regards to climate extremes,uncertainty of the statistical adjustments,and biased physical relationships among different climate variables due to adjustments in single variable series.