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1.
Cognition ; 241: 105628, 2023 12.
Article in English | MEDLINE | ID: mdl-37801750

ABSTRACT

A complete understanding of the predictive processing effect in sentence comprehension needs to understand both the facilitation effect of successful prediction and the cost associated with disconfirmed predictions. The current study compares the predictive processing effect across two types of contexts in Mandarin Chinese: the classifier-noun vs. verb-noun phrases, when controlling for the degree of contextual constraints and cloze probability of the target nouns across the two contexts. The two contexts showed similar N400 patterns for expected target nouns, indicative of an identical facilitation effect of confirmed contextual expectation. But in the post-N400 time window, the processing cost associated with the unexpected words differed between the two contexts. Additional differences between the two contexts were also revealed by the neural oscillation patterns obtained prior to the target noun. The differences between the classifier vs. verb contexts shed new light on the revision mechanism that deals with disconfirmed expectations.


Subject(s)
Electroencephalography , Evoked Potentials , Humans , Male , Female , Semantics , Motivation , Comprehension
2.
Sci Rep ; 13(1): 9991, 2023 06 20.
Article in English | MEDLINE | ID: mdl-37340072

ABSTRACT

Recent studies have revealed great individual variability in cue weighting, and such variation is shown to be systematic across individuals and linked to differences in some general cognitive mechanism. The present study investigated the role of subcortical encoding as a source of individual variability in cue weighting by focusing on English listeners' frequency following responses to the tense/lax English vowel contrast varying in spectral and durational cues. Listeners differed in early auditory encoding with some encoding the spectral cue more veridically than the durational one, while others exhibited the reverse pattern. These differences in cue encoding further correlate with behavioral variability in cue weighting, suggesting that specificity in cue encoding across individuals modulates how cues are weighted in downstream processes.


Subject(s)
Phonetics , Speech Perception , Humans , Cues , Speech Acoustics , Speech Perception/physiology , Language
3.
World Econ ; 2022 Apr 15.
Article in English | MEDLINE | ID: mdl-35601728

ABSTRACT

In this study, we analyse China's foreign trade performance under the global COVID-19 pandemic using the monthly data in 2019-2021. This paper finds that: (1) China's exports to its major trading partners recover and continue to grow in the second half of 2020 and 2021, after falling significantly in the first half of 2020; (2) the mechanical & electrical and the high-tech industries have contributed significantly to the recovery of China's exports; (3) the exports of medical products, furniture and appliances show growth in line with the implementation of quarantine policies; (4) the exports of electronic products and electrical vehicles kept growing both before the outbreak and during the pandemic. It is posited that China should continue to expand trade with emerging markets while maintaining a steady trade volume with the developed economies. We also recommend that China focus its future export development on these industries and products that are growing steadily and have greater potential, including the mechanical & electrical industry, the high-tech industry, electronic products and electrical vehicles.

4.
J Neurosci ; 41(35): 7372-7387, 2021 09 01.
Article in English | MEDLINE | ID: mdl-34301824

ABSTRACT

Human language learning differs significantly across individuals in the process and ultimate attainment. Although decades of research exploring the neural substrates of language learning have identified distinct and overlapping neural networks subserving learning of different components, the neural mechanisms that drive the large interindividual differences are still far from being understood. Here we examine to what extent the neural dynamics of multiple brain networks in men and women across sessions of training contribute to explaining individual differences in learning multiple linguistic components (i.e., vocabulary, morphology, and phrase and sentence structures) of an artificial language in a 7 d training and imaging paradigm with functional MRI. With machine-learning and predictive modeling, neural activation patterns across training sessions were highly predictive of individual learning success profiles derived from the four components. We identified four neural learning networks (i.e., the Perisylvian, frontoparietal, salience, and default-mode networks) and examined their dynamic contributions to the learning success prediction. Moreover, the robustness of the predictions systematically changes across networks depending on specific training phases and the learning components. We further demonstrate that a subset of network nodes in the inferior frontal, insular, and frontoparietal regions increasingly represent newly acquired language knowledge, while the multivariate connectivity between these representation regions is enhanced during learning for more successful learners. These findings allow us to understand why learners differ and are the first to attribute not only the degree of success but also patterns of language learning across components, to neural fingerprints summarized from multiple neural network dynamics.SIGNIFICANCE STATEMENT Individual differences in learning a language are widely observed not only within the same component of language but also across components. This study demonstrates that the dynamics of multiple brain networks across four imaging sessions of a 7 d artificial language training contribute to individual differences in learning-outcome profiles derived from four language components. With machine-learning predictive modeling, we identified four neural learning networks, including the Perisylvian, frontoparietal, salience, and default-mode networks, that contribute to predicting individual learning-outcome profiles and revealed language-component-general and component-specific prediction patterns across training sessions. These findings provide significant insights in understanding training-dependent neural dynamics underlying individual differences in learning success across language components.


Subject(s)
Brain Mapping , Cerebral Cortex/physiology , Individuality , Language Development , Learning/physiology , Nerve Net/physiology , Neural Pathways/physiology , Adult , Connectome , Default Mode Network/physiology , Female , Humans , Language , Language Tests , Machine Learning , Magnetic Resonance Imaging , Male , Memory, Long-Term/physiology , Mental Recall/physiology , Mental Status and Dementia Tests , Models, Neurological , Young Adult
5.
PLoS One ; 16(7): e0253982, 2021.
Article in English | MEDLINE | ID: mdl-34197546

ABSTRACT

While the issue of individual variation has been widely studied in second language learning or processing, it is less well understood how perceptual and musical aptitude differences can explain individual variation in native speech processing. In the current study, we make use of tone merger in Hong Kong Cantonese, an ongoing sound change that concerns the merging of tones in perception, production or both in a portion of native speakers, to examine the possible relationship between tone merger and musical and pitch abilities. Although a previous study has reported the occurrence of tone merger independently of musical training, it has not been investigated before whether tone-merging individuals, especially those merging tones in perception, would have inferior musical perception and fine-grained pitch sensitivities, given the close relationship of speech and music. To this end, we tested three groups of tone-merging individuals with various tone perception and production profiles on musical perception and pitch threshold tasks, in comparison to a group of Cantonese speakers with congenital amusia, and another group of controls without tone merger or amusia. Additionally, the amusics were compared with tone-merging individuals on the details of their tone discrimination and production profiles. The results showed a clear dissociation of tone merger and amusia, with the tone-merging individuals exhibiting intact musical and pitch abilities; on the other hand, the amusics demonstrated widespread difficulties in tone discrimination yet intact tone production, in contrast to the highly selective confusion of a specific tone pair in production or discrimination in tone-merging individuals. These findings provide the first evidence that tone merger and amusia are distinct from each other, and further suggest that the cause of tone merger may lie elsewhere rather than being driven by musical or pitch deficits. We also discussed issues arising from the current findings regarding the neural mechanisms of tone merger and amusia.


Subject(s)
Cognition/physiology , Learning/physiology , Pitch Perception/physiology , Speech Perception/physiology , Acoustic Stimulation , Acoustics , Adult , Auditory Perceptual Disorders/epidemiology , Auditory Perceptual Disorders/physiopathology , Female , Hong Kong/epidemiology , Humans , Language , Male , Music , Speech/physiology , Young Adult
6.
Cogn Sci ; 45(3): e12948, 2021 03.
Article in English | MEDLINE | ID: mdl-33682211

ABSTRACT

Recent studies have documented substantial variability among typical listeners in how gradiently they categorize speech sounds, and this variability in categorization gradience may link to how listeners weight different cues in the incoming signal. The present study tested the relationship between categorization gradience and cue weighting across two sets of English contrasts, each varying orthogonally in two acoustic dimensions. Participants performed a four-alternative forced-choice identification task in a visual world paradigm while their eye movements were monitored. We found that (a) greater categorization gradience derived from behavioral identification responses corresponds to larger secondary cue weights derived from eye movements; (b) the relationship between categorization gradience and secondary cue weighting is observed across cues and contrasts, suggesting that categorization gradience may be a consistent within-individual property in speech perception; and (c) listeners who showed greater categorization gradience tend to adopt a buffered processing strategy, especially when cues arrive asynchronously in time.


Subject(s)
Phonetics , Speech Perception , Cues , Eye Movements , Humans , Individuality
7.
Brain Lang ; 199: 104700, 2019 12.
Article in English | MEDLINE | ID: mdl-31586791

ABSTRACT

Recent neurophysiological studies have proposed distinct roles of ß and γ oscillations in implementing top-down and bottom-up processes. The present study aims to test this hypothesis in the domain of speech perception. We examined ß and γ oscillations elicited to a tone contrast in a passive oddball paradigm, and their relationships with discrimination sensitivity d' and RT from two groups of healthy adults who showed high and low discrimination sensitivity to the contrast. The low-sensitivity group showed a significant reduction in ß, which was further related to d'. Individual differences in RT were related to different frequency bands in the two groups, with a RT-ß correlation in the low-sensitivity group, and a RT-γ relation in the high-sensitivity group. Based on these findings, we suggest that ß, implicated in top-down processing, reflects individual differences in phonological representations, and that γ, involved in bottom-up processing, reflects individual differences in acoustic encoding.


Subject(s)
Beta Rhythm , Gamma Rhythm , Individuality , Speech Perception/physiology , Adult , Female , Humans , Male , Phonetics
8.
Cell Mol Biol Lett ; 24: 39, 2019.
Article in English | MEDLINE | ID: mdl-31205475

ABSTRACT

BACKGROUND: The aim of this study was to investigate the effect of human umbilical vein endothelial cells on epithelial-to-mesenchymal transition of the cervical cancer cell line SiHa by studying the Notch1/lysyl oxidase (LOX)/SNAIL1 pathway. METHODS: Monocultures of SiHa cells, SiHa cells containing a control sequence, and Notch1-silenced SiHa cells, as well as co-cultures of human umbilical vein endothelial cells with SiHa cells and Notch1-silenced SiHa cells, were established. The invasiveness of SiHa cells in each group was evaluated using a Transwell assay. The mRNA levels of E-cadherin and vimentin were detected using quantitative real-time polymerase chain reaction. The expression levels of the matrix metalloproteinases MMP-2 and MMP-9 were determined in SiHa cells using an immunofluorescence assay and the protein activity was detected by gelatin zymography. Changes in LOX, SNAIL1 and NOTCH1 expression in the SiHa cells in each group were detected using western blotting. RESULTS: Compared with monocultured SiHa cells, co-cultured SiHa cells showed a significant increase in their invasiveness and expression levels of vimentin, as well as of NOTCH 1, LOX, and SNAIL1, whereas their expression of E-cadherin was significantly reduced and protein activities of MMP-2 and MMP-9 were increased. Compared with SiHa, mono- and co-cultured NOTCH 1-silenced SiHa cells showed significant reductions in their invasiveness and expression levels of vimentin, NOTCH 1, LOX, and SNAIL1, whereas their expression of E-cadherin significantly increased and protein activities of MMP-2 and MMP-9 decreased. CONCLUSION: Co-culture with human umbilical vein endothelial cells promoted the epithelial-to-mesenchymal transition of SiHa cells by activating the NOTCH1/LOX/SNAIL1 pathway in SiHa cells, which enhanced their invasive and metastatic capacities. The results of this study may provide a new perspective on cervical cancer metastasis and a theoretical basis for clinical treatment.


Subject(s)
Coculture Techniques/methods , Epithelial-Mesenchymal Transition , Protein-Lysine 6-Oxidase/metabolism , Receptor, Notch1/metabolism , Signal Transduction , Snail Family Transcription Factors/metabolism , Uterine Cervical Neoplasms/metabolism , Cell Line, Tumor , Endothelial Cells , Female , Gene Expression Regulation , Human Umbilical Vein Endothelial Cells , Humans , Matrix Metalloproteinase 2/genetics , Matrix Metalloproteinase 9/genetics , Uterine Cervical Neoplasms/physiopathology
9.
J Speech Lang Hear Res ; 62(7): 2411-2424, 2019 07 15.
Article in English | MEDLINE | ID: mdl-31251679

ABSTRACT

Purpose We report a preliminary study that prospectively tests the potential cognitive enhancing effect of foreign language (FL) learning in older adults with no clear signs of cognitive decline beyond what is age typical. Because language learning engages a large brain network that overlaps with the network of cognitive aging, we hypothesized that learning a new language later in life would be beneficial. Method Older adults were randomly assigned to 3 training groups: FL, games, and music appreciation. All were trained predominately by a computer-based program for 6 months, and their cognitive abilities were tested before, immediately after, and 3 months after training. Results FL and games, but not music appreciation, improved overall cognitive abilities that were maintained at 3 months after training. Conclusion This is the 1st randomized control study providing preliminary support for the cognitive benefits of FL learning.


Subject(s)
Cognitive Dysfunction/prevention & control , Language Therapy/methods , Aged , Attention/physiology , Cognitive Dysfunction/physiopathology , Female , Games, Recreational , Humans , Male , Memory, Short-Term/physiology , Music Therapy/methods , Reading , Treatment Outcome
10.
Neuropsychologia ; 121: 28-36, 2018 12.
Article in English | MEDLINE | ID: mdl-30391567

ABSTRACT

Auditory neuroscience has provided strong evidence that neural oscillations synchronize to the rhythm of speech stimuli, and oscillations at different frequencies have been linked to processing of different language structures. The present study aims to examine how these ubiquitous neurophysiological attributes may inform us about the brain processes that underpin individual differences in speech perception and production, which in turn elucidate the specific functions of neural oscillations in the domain of speech processing. To this end, we recorded electrophysiological responses to a lexical tone contrast in a passive auditory oddball paradigm from two groups of healthy tone-language speakers who were equal in perceptual discriminability but differed in response latency and production distinctiveness of the tone contrast. Time-frequency analysis was applied to the EEG data, and decomposed into theta (4-7 Hz), beta (12-30 Hz), and gamma (30-50 Hz) frequency bands. Results show that listeners with longer discrimination RT and less distinctive production showed significantly higher induced (non-phase-locked) gamma during tone processing. Moreover, among speakers with less distinctive production, individual differences in induced gamma were significantly correlated with discrimination latency and production distinction. Based on the present findings, we propose that differences in gamma oscillations reflect differential sensory/perceptual computations during acoustic encoding, impacting the quality of perceptual representations, which further mediates individual differences in speech perception and production.


Subject(s)
Brain/physiology , Gamma Rhythm/physiology , Individuality , Phonetics , Speech Perception/physiology , Speech/physiology , Discrimination, Psychological/physiology , Female , Humans , Male , Pattern Recognition, Physiological/physiology , Psycholinguistics , Reaction Time/physiology , Young Adult
11.
Atten Percept Psychophys ; 79(3): 945-963, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28144832

ABSTRACT

This study investigated whether individual differences in cognitive functions, attentional abilities in particular, were associated with individual differences in the quality of phonological representations, resulting in variability in speech perception and production. To do so, we took advantage of a tone merging phenomenon in Cantonese, and identified three groups of typically developed speakers who could differentiate the two rising tones (high and low rising) in both perception and production [+Per+Pro], only in perception [+Per-Pro], or in neither modalities [-Per-Pro]. Perception and production were reflected, respectively, by discrimination sensitivity d' and acoustic measures of pitch offset and rise time differences. Components of event-related potential (ERP)-the mismatch negativity (MMN) and the ERPs to amplitude rise time-were taken to reflect the representations of the acoustic cues of tones. Components of attention and working memory in the auditory and visual modalities were assessed with published test batteries. The results show that individual differences in both perception and production are linked to how listeners encode and represent the acoustic cues (pitch contour and rise time) as reflected by ERPs. The present study has advanced our knowledge from previous work by integrating measures of perception, production, attention, and those reflecting quality of representation, to offer a comprehensive account for the underlying cognitive factors of individual differences in speech processing. Particularly, it is proposed that domain-general attentional switching affects the quality of perceptual representations of the acoustic cues, giving rise to individual differences in perception and production.


Subject(s)
Attention/physiology , Evoked Potentials/physiology , Individuality , Memory, Short-Term/physiology , Speech Perception/physiology , Speech/physiology , Adult , Electroencephalography , Female , Humans , Male , Young Adult
12.
J Acoust Soc Am ; 139(6): 3226, 2016 06.
Article in English | MEDLINE | ID: mdl-27369146

ABSTRACT

One way to understand the relationship between speech perception and production is to examine cases where the two dissociate. This study investigates the hypothesis that perceptual acuity reflected in event-related potentials (ERPs) to rise time of sound amplitude envelope and pitch contour [reflected in the mismatch negativity (MMN)] may associate with individual differences in production among speakers with otherwise comparable perceptual abilities. To test this hypothesis, advantage was taken of an on-going sound change-tone merging in Cantonese, and compared the ERPs between two groups of typically developed native speakers who could discriminate the high rising and low rising tones with equivalent accuracy but differed in the distinctiveness of their production of these tones. Using a passive oddball paradigm, early positive-going EEG components to rise time and MMN to pitch contour were elicited during perception of the two tones. Significant group differences were found in neural responses to rise time rather than pitch contour. More importantly, individual differences in efficiency of tone discrimination in response latency and magnitude of neural responses to rise time were correlated with acoustic measures of F0 offset and rise time differences in productions of the two rising tones.


Subject(s)
Individuality , Phonetics , Pitch Discrimination , Speech Acoustics , Speech Perception , Acoustic Stimulation , Acoustics , Audiometry, Speech , Auditory Pathways/physiology , Electroencephalography , Evoked Potentials, Auditory , Female , Humans , Male , Reaction Time , Sound Spectrography , Speech Production Measurement , Time Factors , Young Adult
13.
Psychon Bull Rev ; 22(6): 1725-32, 2015 Dec.
Article in English | MEDLINE | ID: mdl-25917143

ABSTRACT

A growing body of research has suggested that cognitive abilities may play a role in individual differences in speech processing. The present study took advantage of a widespread linguistic phenomenon of sound change to systematically assess the relationships between speech processing and various components of attention and working memory in the auditory and visual modalities among typically developed Cantonese-speaking individuals. The individual variations in speech processing are captured in an ongoing sound change-tone merging in Hong Kong Cantonese, in which typically developed native speakers are reported to lose the distinctions between some tonal contrasts in perception and/or production. Three groups of participants were recruited, with a first group of good perception and production, a second group of good perception but poor production, and a third group of good production but poor perception. Our findings revealed that modality-independent abilities of attentional switching/control and working memory might contribute to individual differences in patterns of speech perception and production as well as discrimination latencies among typically developed speakers. The findings not only have the potential to generalize to speech processing in other languages, but also broaden our understanding of the omnipresent phenomenon of language change in all languages.


Subject(s)
Attention/physiology , Auditory Perception/physiology , Executive Function/physiology , Individuality , Memory, Short-Term/physiology , Speech/physiology , Adult , Hong Kong , Humans , Speech Perception/physiology , Young Adult
14.
Acta Pharmacol Sin ; 29(4): 430-6, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18358088

ABSTRACT

AIM: To examine how the sarcoplasmic reticulum (SR) Ca2+ content changes and the underlying mechanism in L-thyroxin-induced cardiac hypertrophy. METHODS: Echocardiography was used to confirm the establishment of the cardiac hypertrophy model. The confocal microscopy and fluorescent indicator Fluo-3 was applied to examine the intracellular Ca2+ concentration ([Ca2+]i), the Ca2+ sparks, and the caffeine-induced Ca2+ transient in freshly isolated cardiac ventricular myocytes. The activity of sarcolemmal and SR Ca2+-ATPase 2a (SERCA2a) in the ventricular tissue was also measured, respectively. RESULTS: L-thyroxin (1 mg/kg injection for 10 d) induces left ventricular cardiac hypertrophy with normal myocardial function. The decreased caffeine-induced Ca2+ transient in the Ca2+-free solution was detected. The spontaneous Ca2+ sparks in hypertrophied myocytes occurred more frequently than in normal cells, with similar duration and spatial spread, but smaller amplitude. Then the basal [Ca2+]i increase was observed in quiescent left ventricular myocytes from hyperthyroidism rats. The activity of sarcolemmal and SR Ca2+-ATPase was decreased in the hypertrophied ventricle tissue. CONCLUSION: The results suggested that the reduced SR Ca2+ content may be associated with an increased Ca2+ leak and reduced SERCA2a activity, contributing to abnormal intracellular Ca2+ handling during hypertrophy in hyperthyroidism rats.


Subject(s)
Calcium/metabolism , Hypertrophy, Left Ventricular/metabolism , Sarcoplasmic Reticulum Calcium-Transporting ATPases/metabolism , Sarcoplasmic Reticulum/metabolism , Thyroxine/pharmacology , Animals , Caffeine/metabolism , Caffeine/pharmacology , Cardiomegaly/metabolism , Cardiomegaly/physiopathology , Electrocardiography , Heart Ventricles/cytology , Male , Myocytes, Cardiac/metabolism , Random Allocation , Rats , Rats, Sprague-Dawley , Sarcoplasmic Reticulum Calcium-Transporting ATPases/analysis , Thyroxine/metabolism
15.
Fa Yi Xue Za Zhi ; 22(3): 198-203, 2006 Jun.
Article in Chinese | MEDLINE | ID: mdl-16856343

ABSTRACT

OBJECTIVE: To explore the distribution and genetic pattern of heteroplasmy of mtDNA control region among Chinese Han population. METHODS: The human mtDNA control region was amplified into 6 amplicons overlapped partially each other. Then these amplicons were analyzed by DHPLC which we developed to detect low heteroplasmic signals. RESULTS: There were 51 heteroplasmic cases (34%) found from different tissues of 150 unrelated individuals of the Chinese Han population. mtDNA heteroplasmy shows non-uniform distribution in various tissues. The highest occurrence of heteroplasmy was in brain tissues (50/150) and myocardium (48/150), the lowest was in bone tissues (22/150). 36 sites of heteroplasmy were identified in our samples. Three sites of mtDNA heteroplasmy rarely co-existed in one individual. No sex differences were detected in the frequency of mtDNA heteroplasmy. No change in the mtDNA heteroplasmy profile was detected of blood samples from the same individuals within 2 years. Individuals older than 41 years showed a heteroplasmy frequency significantly higher than their younger counterparts. Members from the same maternal pedigree in a family can share the same sites of mtDNA heteroplasmy but may have different heteroplasmy contents at those sites. CONCLUSION: DHPLC is a highly sensitive technique in detecting heteroplasmy. mtDNA heteroplasmy widely exists in the Chinese Han population. The results shown here could potentially have a guidable value in forensic individual identification and parentage testing.


Subject(s)
Asian People/genetics , DNA Mutational Analysis/methods , DNA, Mitochondrial/genetics , Genetic Heterogeneity , Adolescent , Adult , Aged , Aged, 80 and over , Base Sequence , Blood Stains , Child , China/ethnology , Chromatography, High Pressure Liquid/methods , DNA, Mitochondrial/analysis , Hair/chemistry , Humans , Middle Aged , Mutation , Polymorphism, Genetic/genetics , Young Adult
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 22(5): 507-9, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16215936

ABSTRACT

OBJECTIVE: To explore the mutations of 15 short tandem repeat (STR) loci in PlowerPlex16 System which are world-widely used in parentage testing. METHODS: Mutations of 15 STR loci in PlowerPlex16 System were investigated in 1921 parentage testing cases from Chinese population. RESULTS: In 1921 parentage cases, seventy cases (3.644%) were found to have mutations. Among these were one case with double mutations (D21S11 and PentaD) and another case with two different mutations (D7S820 and D16S539) in two children. The total number of mutated STR loci observed was 72 over 3764 meiosis with a mutation rate of 0.128% +/- 0.1104% x 10(-3). The highest mutation rate was 0.292% at vWA and D21S11. No mutation was observed at TH01 or at TPOX. The mutated alleles coming from father were five times more than those from mother. The majority (98.611%) of mutated alleles were the results of one-step mutation. The ratio of one-step gain versus loss was 1.826:1. There was only one multiple-step mutation with a double-repeat gain observed at PentaD locus. In the PlowerPlex16 System, nine loci, namely D8S1179, Penta D, D13S317, D16S539, D7S820, D5S818, D3S1358, TH01 and TPOX, have lower mutation rates and are more suitable for parentage testing. CONCLUSION: Mutation of STR is relatively common and often makes parentage testing more complicated. Selecting stable STR locus with low mutation rate is more important in parentage testing.


Subject(s)
Asian People/genetics , Microsatellite Repeats/genetics , Mutation , Alleles , China , Genetics, Population , Humans , Polymerase Chain Reaction
17.
Yi Chuan Xue Bao ; 30(8): 781-4, 2003 Aug.
Article in Chinese | MEDLINE | ID: mdl-14682249

ABSTRACT

To study the core sequence of the hypervariable short tandom repeats, we sequenced the alleles of D12S391 and D11S554 loci which show high mutation rate in Guangzhou Han population. The D12S391 locus has the basic sequence structure (AGAT)8-17 (AGAC)6-10 (AGAT)0-1. The smaller alleles (15-18) at D12S391 locus have variation limited to the number of the first repeat (AGAT), whereas the larger alleles (19-27) have more complex variation in the number not only of the first repeat but also of the other two repeats (AGAC) and (AGAT). Four new alleles named 22", 23", 24"' and 27 respectively were found. The D11S554 locus has more complex core sequence classified into five sequence types. Three of them have the same basic sequence structure (AAAGG) (AAAG)4 (AAAGG)2-3 (AAAG)13-19. In the larger alleles (219-249), there are four and five nucleotide repeats. Some of the larger alleles(219-249) have one base variation, bases insert or deletion. The two loci all have sequence heterogeneity. Our results indicated that the two loci D12S391 and D11S554 belong to complex repeats and this adds difficulty to their correctly typing. It is essential to construct allelic ladder in each population.


Subject(s)
Genetic Variation , Microsatellite Repeats/genetics , Alleles , Base Sequence , China , DNA/chemistry , DNA/genetics , Female , Gene Frequency , Humans , Male , Sequence Analysis, DNA
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 19(6): 491-4, 2002 Dec.
Article in Chinese | MEDLINE | ID: mdl-12476422

ABSTRACT

OBJECTIVE: To explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population. METHODS: A genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1. RESULTS: Multipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively. CONCLUSION: These results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.


Subject(s)
Chromosomes, Human, Pair 1/genetics , Genetic Predisposition to Disease/genetics , Schizophrenia/genetics , Adult , China , Chromosome Mapping , Family Health , Female , Genetic Linkage , Humans , Lod Score , Male , Microsatellite Repeats , Middle Aged , Models, Genetic , Pedigree
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 19(4): 281-4, 2002 Aug.
Article in Chinese | MEDLINE | ID: mdl-12170462

ABSTRACT

OBJECTIVE: To explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia. METHODS: A series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1. RESULTS: Haseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis. CONCLUSION: The results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.


Subject(s)
Chromosomes, Human, Pair 1/genetics , Quantitative Trait, Heritable , Schizophrenia/genetics , Family Health , Genetic Linkage , Humans , Lod Score , Microsatellite Repeats
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 19(4): 308-12, 2002 Aug.
Article in Chinese | MEDLINE | ID: mdl-12170468

ABSTRACT

OBJECTIVE: To understand the mutational patterns and mechanism of short tandem repeats(STRs). METHODS: The DNA samples of 19 parent-child pairs with mutations in three loci (FGA, D12S391, and D11S554) were genotyped by silver staining on STR. Alleles to be sequenced were excised from gels, reamplified by PCR, and purified. Sequencing was performed by use of cycle sequencing. RESULTS: There were 18 out of 19 pedigrees in which the 'new' alleles gained or lost a single repeat (8 gains, 7 losses, and 3 being indistinguishable). Only one pedigree lost two repeats. In the 19 pedigrees, there were 13 pedigrees whose 'new' alleles came from fathers, 3 from mothers, 3 from either father or mother. The ratio was 4 1 between fathers and mothers. The mutation of three STR loci occurred in the long, uninterrupted tetranucleotide repeat regions ('CTTT' in FGA, 'AGAT' in D12S391, and 'AAAG' in D11S554). CONCLUSION: Single- step mutations accounted for 95% of STR mutation events in these three loci: FGA, D12S391, and D11S554. The rest were double step mutations. There was no insertion or deletion of an incomplete repeat in any of the pedigrees. The mutation was mainly caused by fathers. The long, uninterrupted tetranucleotide repeats in these three loci might be susceptible to mutation.


Subject(s)
Tandem Repeat Sequences/genetics , Alleles , Base Sequence , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Female , Gene Frequency , Genotype , Humans , Male , Microsatellite Repeats/genetics , Mutation , Nuclear Family
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