A library rich in CA/GT microsatellites was constructed from the Paralichthys olivaceus genome by combining biotin capture method and radioactive labeling hybridization. Five hundred and twenty six positive clones wer...A library rich in CA/GT microsatellites was constructed from the Paralichthys olivaceus genome by combining biotin capture method and radioactive labeling hybridization. Five hundred and twenty six positive clones were obtained through twice screens. Sequencing confirmed 133 microsatellite loci （number of repeats t〉 5） in 119 positive clones. Of these microsatellites, two （1.5%） had compound repeat motifs, 63 （47.37%） had perfect motifs and 68 （51.13%） had imperfect motifs. Primer pairs were designed in the flanking regions of 22 microsatelites and subjected to PCR amplification. In 8 artificial gynogenesis families, four pairs failed to amplification, one pair was monomorphic, and the rest were polymorphic with an average of 5.2 alleles per locus. Heterozygosities ranged between 0. 375 and 0. 846, PIC ranged between 0. 305 and 0. 823. The results suggested that most of the microsatellites we isolated were qualified to be applied to the population genetic studies of P. olivaceus.展开更多
Microsatellite loci distributing on genome randomly act as effective genetic markers. To date, about 200 microsatellite loci were found in cervids b y transferring microsatellite PCR primers derived in bovine, ovine ...Microsatellite loci distributing on genome randomly act as effective genetic markers. To date, about 200 microsatellite loci were found in cervids b y transferring microsatellite PCR primers derived in bovine, ovine to cervids, a s well as a few loci derived directly from deer microsatellite library. These lo ci have been used in parentage determination, genetic diversity and population s tructure, population introgression, as genetic marker gestation length and winte ring survival et al. However, microsatellite loci presently found are untouchabl e to the demand of application. Future work should include: 1) isolating a large number of cervine microsatellite loci, 2) constructing genetic and physical map s of microsatellite loci. So that microsatelites have a strong base for advanced applications in deer.展开更多
Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objecti...Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.展开更多
Allelic loss of chromosome 4q is one of the most frequent genetic aberrations found in human hepatocellular carcinoma (HCC) and suggests the presence of putat ive tumor suppressor genes within this region. To precisel...Allelic loss of chromosome 4q is one of the most frequent genetic aberrations found in human hepatocellular carcinoma (HCC) and suggests the presence of putat ive tumor suppressor genes within this region. To precisely define the region co ntaining these tumor suppressor genes for further positional cloning, we tried a detailed deletion mapping strategy in 149 HCCs by using 49 microsatellite marke rs covering 4q12≈25. A common region with allelic loss has been identified base d on the interstitial deletions occurring within it; this region is found betwee n D4S1534 and D4S1572 (a 17.5-cM genetic interval). When we included all cases with limited aberration regions for comparison, 2 smaller regions were derived: 1 between D4S1534 and D4S2460 (3.52 cM) and 1 between D4S2433 and D4S1572 (8.44 cM). A few candidate genes were found to be down-regulated in HCCs, but without sequence mutations. In these HCCs, 4q alleleic loss was associated with hepatit is B virus infection status and the elevation of serum alpha-fetoprotein (≥400 ng/mL). In conclusion, the current study not only mapped a common allelic loss region on chromosome 4q, but it also revealed that its loss may be involved in h epatitis B virus-related hepatocarcinogenesis and the elevation of serum alpha -fetoprotein.展开更多
The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantita...The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantitative multiplex PCR. T wo patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistingui shable from idiopathic Parkinsons disease and no atypical features were presen t, by contrast with reports of families with triplication of the same gene. Thes e results indicate that SNCA is more frequently associated with familial Parkins ons disease than previously thought, and that there is a clear dosage effect a ccording to the number of supernumerary copies of this gene.展开更多
Amphioctopus fangsiao is one of the most economically important species and has been considered to be a candidate for aquaculture. In order to facilitate its fine-scale genetic analyses, we constructed a normalized fu...Amphioctopus fangsiao is one of the most economically important species and has been considered to be a candidate for aquaculture. In order to facilitate its fine-scale genetic analyses, we constructed a normalized full-length library successfully and developed a set of microsatellite markers in this study. The normalized full-length library had a storage capacity of 6.9×105 independent clones. The recombination efficiency was 95% and the average size of inserted fragments was longer than 1000 bp. A total of 3440 high quality ESTs were obtained, which were assembled into 1803 unigenes. Of these unigenes, 450(25%) were assigned into 33 Gene Ontology terms, 576(31.9%) into 153 Kyoto Encyclopedia of Genes and Genomes pathways, and 275(15.3%) into 22 Clusters of Orthologous Groups. Seventy-six polymorphic microsatellite markers were identified. The number of alleles per locus ranged from 4 to 17, and the observed and expected heterozygosities varied between 0.167 and 0.967 and between 0.326 and 0.944, respectively. Twelve loci were significantly deviated from Hardy-Weinberg equilibrium after Bonferroni correction and no linkage disequilibrium was found between different loci. This study provided not only a useful resource for the isolation of the functional genes, but also a set of informative microsatellites for the assessment of population structure and conservation genetics of A. fangsiao.展开更多
Sexual dimorphism is often used as a proxy for the intensity of sexual selection in comparative studies of sexual selection and diversification. The Mexican Goodeinae are a group of livebearing freshwater fishes with ...Sexual dimorphism is often used as a proxy for the intensity of sexual selection in comparative studies of sexual selection and diversification. The Mexican Goodeinae are a group of livebearing freshwater fishes with large variation between species in sexual dimorphism in body shape. Previously we found an association between variation in morphological sexual dimorphism between species and the amount of gene flow within populations in the Goodeinae. Here we have examined if mor- phological differentiation within a single dimorphic species is related to assortative mating or gene flow between populations. In the Amarillo fish Girardinichthys multiradiatus studies have shown that exaggerated male fins are targets of female preferences. We find that populations of the species differ in the level of sexual dimorphism displayed due to faster evolution of differences in male than female morphology. However, this does not predict variation in assortative mating tests in the laboratory; in fact dif- ferences in male morphology are negatively correlated with assortative mating. Microsatellite markers reveal significant genetic differences between populations. However, gene flow is not predicted by either morphological differences or assortative mating. Rather, it demonstrates a pattern of isolation by distance with greater differentiation between watersheds. We discuss the caveats of predicting behavioural and genetic divergence from so-called proxies of sexual selection [Current Zoology 58 （3）： 440-452, 2012].展开更多
文摘A library rich in CA/GT microsatellites was constructed from the Paralichthys olivaceus genome by combining biotin capture method and radioactive labeling hybridization. Five hundred and twenty six positive clones were obtained through twice screens. Sequencing confirmed 133 microsatellite loci （number of repeats t〉 5） in 119 positive clones. Of these microsatellites, two （1.5%） had compound repeat motifs, 63 （47.37%） had perfect motifs and 68 （51.13%） had imperfect motifs. Primer pairs were designed in the flanking regions of 22 microsatelites and subjected to PCR amplification. In 8 artificial gynogenesis families, four pairs failed to amplification, one pair was monomorphic, and the rest were polymorphic with an average of 5.2 alleles per locus. Heterozygosities ranged between 0. 375 and 0. 846, PIC ranged between 0. 305 and 0. 823. The results suggested that most of the microsatellites we isolated were qualified to be applied to the population genetic studies of P. olivaceus.
文摘Microsatellite loci distributing on genome randomly act as effective genetic markers. To date, about 200 microsatellite loci were found in cervids b y transferring microsatellite PCR primers derived in bovine, ovine to cervids, a s well as a few loci derived directly from deer microsatellite library. These lo ci have been used in parentage determination, genetic diversity and population s tructure, population introgression, as genetic marker gestation length and winte ring survival et al. However, microsatellite loci presently found are untouchabl e to the demand of application. Future work should include: 1) isolating a large number of cervine microsatellite loci, 2) constructing genetic and physical map s of microsatellite loci. So that microsatelites have a strong base for advanced applications in deer.
文摘Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.
文摘Allelic loss of chromosome 4q is one of the most frequent genetic aberrations found in human hepatocellular carcinoma (HCC) and suggests the presence of putat ive tumor suppressor genes within this region. To precisely define the region co ntaining these tumor suppressor genes for further positional cloning, we tried a detailed deletion mapping strategy in 149 HCCs by using 49 microsatellite marke rs covering 4q12≈25. A common region with allelic loss has been identified base d on the interstitial deletions occurring within it; this region is found betwee n D4S1534 and D4S1572 (a 17.5-cM genetic interval). When we included all cases with limited aberration regions for comparison, 2 smaller regions were derived: 1 between D4S1534 and D4S2460 (3.52 cM) and 1 between D4S2433 and D4S1572 (8.44 cM). A few candidate genes were found to be down-regulated in HCCs, but without sequence mutations. In these HCCs, 4q alleleic loss was associated with hepatit is B virus infection status and the elevation of serum alpha-fetoprotein (≥400 ng/mL). In conclusion, the current study not only mapped a common allelic loss region on chromosome 4q, but it also revealed that its loss may be involved in h epatitis B virus-related hepatocarcinogenesis and the elevation of serum alpha -fetoprotein.
文摘The α synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinsons disease. We screened 119 individuals from families with this rar e form of the disease for SNCA duplications by semiquantitative multiplex PCR. T wo patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistingui shable from idiopathic Parkinsons disease and no atypical features were presen t, by contrast with reports of families with triplication of the same gene. Thes e results indicate that SNCA is more frequently associated with familial Parkins ons disease than previously thought, and that there is a clear dosage effect a ccording to the number of supernumerary copies of this gene.
基金the National Natural Science Foundation of China (Nos. 31302215, 31272643)the Shandong Provincial Natural Science Foundation (Nos. BS2014NY010, ZR2013CQ030)the Shandong Provincial Primary Research and Development Projects (No. 2015GNC110017)
文摘Amphioctopus fangsiao is one of the most economically important species and has been considered to be a candidate for aquaculture. In order to facilitate its fine-scale genetic analyses, we constructed a normalized full-length library successfully and developed a set of microsatellite markers in this study. The normalized full-length library had a storage capacity of 6.9×105 independent clones. The recombination efficiency was 95% and the average size of inserted fragments was longer than 1000 bp. A total of 3440 high quality ESTs were obtained, which were assembled into 1803 unigenes. Of these unigenes, 450(25%) were assigned into 33 Gene Ontology terms, 576(31.9%) into 153 Kyoto Encyclopedia of Genes and Genomes pathways, and 275(15.3%) into 22 Clusters of Orthologous Groups. Seventy-six polymorphic microsatellite markers were identified. The number of alleles per locus ranged from 4 to 17, and the observed and expected heterozygosities varied between 0.167 and 0.967 and between 0.326 and 0.944, respectively. Twelve loci were significantly deviated from Hardy-Weinberg equilibrium after Bonferroni correction and no linkage disequilibrium was found between different loci. This study provided not only a useful resource for the isolation of the functional genes, but also a set of informative microsatellites for the assessment of population structure and conservation genetics of A. fangsiao.
文摘Sexual dimorphism is often used as a proxy for the intensity of sexual selection in comparative studies of sexual selection and diversification. The Mexican Goodeinae are a group of livebearing freshwater fishes with large variation between species in sexual dimorphism in body shape. Previously we found an association between variation in morphological sexual dimorphism between species and the amount of gene flow within populations in the Goodeinae. Here we have examined if mor- phological differentiation within a single dimorphic species is related to assortative mating or gene flow between populations. In the Amarillo fish Girardinichthys multiradiatus studies have shown that exaggerated male fins are targets of female preferences. We find that populations of the species differ in the level of sexual dimorphism displayed due to faster evolution of differences in male than female morphology. However, this does not predict variation in assortative mating tests in the laboratory; in fact dif- ferences in male morphology are negatively correlated with assortative mating. Microsatellite markers reveal significant genetic differences between populations. However, gene flow is not predicted by either morphological differences or assortative mating. Rather, it demonstrates a pattern of isolation by distance with greater differentiation between watersheds. We discuss the caveats of predicting behavioural and genetic divergence from so-called proxies of sexual selection [Current Zoology 58 （3）： 440-452, 2012].
