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1.
Article in Chinese | WPRIM | ID: wpr-879600

ABSTRACT

OBJECTIVE@#To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions.@*METHODS@#Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations.@*RESULTS@#The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up.@*CONCLUSION@#Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.


Subject(s)
DNA Copy Number Variations , Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Genetic Counseling , Humans , Mutation , Pregnancy , Trinucleotide Repeat Expansion , Trinucleotide Repeats
2.
Article in Chinese | WPRIM | ID: wpr-879582

ABSTRACT

OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.


Subject(s)
Female , Fragile X Mental Retardation Protein/metabolism , Fragile X Syndrome/genetics , Humans , Ovarian Diseases , Ovarian Reserve/genetics , Primary Ovarian Insufficiency/genetics , Trinucleotide Repeats/genetics
3.
Article in Chinese | WPRIM | ID: wpr-879500

ABSTRACT

OBJECTIVE@#To analyze the dynamic variant and clinical subtype of a pedigree affected with spinocerebellar ataxia (SCA) by using fluorescent-labeled primer combined with capillary electrophoresis.@*METHODS@#Genomic DNA was extracted from 8 members including 6 patients and 2 healthy individuals from the pedigree. Six pairs of fluorescent-labeled primers were designed to screen pathological variants in association with common subtypes of SCA including SCA1, SCA2, SCA3, SCA6, SCA12 and SCA17.The PCR products were detected by capillary electrophoresis.@*RESULTS@#The number of CAG repeats in the SCA3 gene of the proband were determined as 8 and 70, exceeded the normal range(12 to 40), which suggested a diagnosis of SCA3. The other five patients were all detected with abnormal CAG repeats in the SCA3 gene, while the two healthy individuals were determined to be within the normal range.@*CONCLUSION@#The abnormal expansion of CAG repeats in the SCA3 gene probably underlay the pathogenesis of the disease in this pedigree. Combined fluorescent-labeled primers PCR and capillary electrophoresis can detect dynamic variants among SCA patients with efficiency and accuracy.


Subject(s)
Ataxin-3/genetics , Genetic Variation , Humans , Machado-Joseph Disease/genetics , Pedigree , Repressor Proteins/genetics , Trinucleotide Repeats/genetics
4.
Article in English | WPRIM | ID: wpr-742343

ABSTRACT

PURPOSE: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains unclear, especially in Asian populations. This study was designed to evaluate the relationship between AR CAG repeat length polymorphism and MS in a Korean male population. MATERIALS AND METHODS: We explored the relationship between AR CAG repeat length polymorphism and MS in a Korean male population (n=337) from 2013 to 2014. AR CAG repeat were determined by microsatellite fragment sizing. Components of MS and laboratory data (lipid profile, fasting glucose, and glycated hemoglobin (HbA1c)) were analyzed with AR CAG repeat length. RESULTS: The mean AR CAG repeat length was 22.3±4.7. Sixty-nine men (20.5%) were diagnosed with MS. Men with MS showed significantly longer AR CAG repeat lengths compared with men without MS (26.2 vs. 21.4, p < 0.001). With increasing CAG repeat, the number of components meeting the NCEP criteria increased significantly. AR CAG repeat length was associated significantly with high density lipoprotein (HDL), triglyceride, and HbA1c levels. In the multivariate analysis, CAG repeat length, waist circumference, and levels of HDL were independently associated with MS. (odds ratio (OR)=1.37, 1.19 and 0.90, p < 0.001, 0.045, and 0.001, respectively). CONCLUSIONS: AR CAG repeat length was associated with MS and laboratory test results, such as those for HDL, triglycerides, and HbA1c, in Korean males. Longer CAG repeat length was identified as a risk factor for MS in Korean males.


Subject(s)
Asian Continental Ancestry Group , Epidemiologic Studies , Fasting , Glucose , Glycated Hemoglobin A , Humans , Lipoproteins , Male , Microsatellite Repeats , Multivariate Analysis , Phenotype , Receptors, Androgen , Risk Factors , Triglycerides , Trinucleotide Repeats , Waist Circumference
5.
Rev. chil. endocrinol. diabetes ; 10(4): 142-149, oct. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-999021

ABSTRACT

Puberty is a period of transition during which girls and boys acquire secondary sexual characteristics and reproductive capacity. The order of appearance of the pubertal traits accounts for a correct or otherwise incorrect activation of the hypothalamic-pituitary-gonadal axis. The growth of the pubic hair before 8 years in girls and 9 years in boys (precocious pubarche, PP) without any other apparent cause has been largely attributed to the early increase of adrenal androgen levels. Also, premature adrenarche (PA) was traditionally considered an extreme within the normal range, however emerging evidence links early androgen excess with the metabolic syndrome. In this context, it has been suggested that an exacerbated clinical manifestation of androgens may be related to greater sensitivity of the androgen receptor (AR). The purpose of this review is to summarize the current knowledge of the contribution of the CAG repeats polymorphisms of AR in the peripubertal manifestations of androgens with special emphasis on precocious pubarche and body composition


Subject(s)
Humans , Male , Polymorphism, Genetic , Puberty, Precocious/genetics , Receptors, Androgen/genetics , Trinucleotide Repeats , Body Composition , Adrenarche/genetics
6.
Article in Korean | WPRIM | ID: wpr-725027

ABSTRACT

OBJECTIVES: According to previous studies, the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. Some studies have linked the (AAT)n trinucleotide repeat polymorphism in CNR1 gene with the risk of schizophrenia. Meanwhile, smooth pursuit eye movement (SPEM) has been regarded as one of the most consistent endophenotypes of schizophrenia. In this study, we investigated the association between the (AAT)n trinucleotide repeats in CNR1 gene and SPEM abnormality in Korean patients with schizophrenia. METHODS: We measured SPEM function in 167 Korean patients with schizophrenia (84 male, 83 female) and they were divided according to SPEM function into two groups, good and poor SPEM function groups. We also investigated allele frequencies of (AAT)n repeat polymorphisms on CNR1 gene in each group. A logistic regression analysis was performed to find the association between SPEM abnormality and the number of (AAT)n trinucleotide repeats. RESULTS: The natural logarithm value of signal/noise ratio (Ln S/N ratio) of the good SPEM function group was 4.34 ± 0.29 and that of the poor SPEM function group was 3.21 ± 0.70. In total, 7 types of trinucleotide repeats were identified, each containing 7, 10, 11, 12, 13, 14, and 15 repeats, respectively. In the patients with (AAT)₇ allele, the distributions of the good and poor SPEM function groups were 18 (11.1%) and 19 (11.0%) respectively. In the patients with (AAT)₁₀ allele, (AAT)₁₁ allele, (AAT)₁₂ allele, (AAT)₁₃ allele, (AAT)₁₄ allele and (AAT)₁₅ allele, the distributions of good and poor SPEM function groups were 13 (8.0%) and 12 (7.0%), 4 (2.5%) and 6 (3.5%), 31 (19.8%) and 35 (20.3%), 51 (31.5%) and 51 (29.7%), 36 (22.2%) and 45 (26.2%), 9 (5.6%) and 4 (2.3%) respectively. As the number of (AAT) n repeat increased, there was no aggravation of abnormality of SPEM function. CONCLUSIONS: There was no significant aggravation of SPEM abnormality along with the increase of number of (AAT)n trinucleotide repeats in the CNR1 gene in Korean patients with schizophrenia.


Subject(s)
Alleles , Endophenotypes , Eye Movements , Gene Frequency , Humans , Logistic Models , Male , Pursuit, Smooth , Receptors, Cannabinoid , Schizophrenia , Trinucleotide Repeats
9.
Article in Chinese | WPRIM | ID: wpr-239545

ABSTRACT

<p><b>OBJECTIVE</b>To analyze (CGG)n repeats sequence and AGG interspersion correlated with unstable expansion of FMR1 gene in a general Chinese population.</p><p><b>METHODS</b>AmplideX FMR1 PCR Kit was used to amplify 380 X chromosomes from randomly selected 176 males and 102 females, 11 permutation carriers and 10 full mutation patients have served as controls. Results of capillary electrophoresis were analyzed with GeneMapper software Version 4.0. SPSS 11.0 software was used for statistical analysis.</p><p><b>RESULTS</b>The ratio of heterozygous females was 64.70%. The number of alleles in general males and females was 15 and 14, the classes of AGG pattern was 26 and 27, respectively. The range of alleles was between 17 to 45 CGG repeats in males and 21 to 44 CGG repeats in females, and 1 male was identified as gray zone carrier. The most frequent allele was 29 CGG repeats, which was followed by 30 and 36 repeats, while 28 CGG repeats were absent. The most common AGG pattern was 9A9A9, 99.21% of the population was detected with different forms and numbers of AGG interruption, and 6A interruption pattern was found in 10.02% samples especially in individuals with more CGG repeats. However, 57.58% of control samples had no AGG interruption, and none of the controls had 6A interruption pattern. No significant difference was observed in allele frequent distribution of (CGG)n repeats and AGG interspersion patterns between the males and females (P > 0.05), and AGGs was significantly different between general population and controls (P < 0.05).</p><p><b>CONCLUSION</b>AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China, 9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.</p>


Subject(s)
Adolescent , Adult , Alleles , Female , Fragile X Mental Retardation Protein , Genetics , Fragile X Syndrome , Genetics , Humans , Male , Middle Aged , Trinucleotide Repeats
10.
Yonsei Medical Journal ; : 993-997, 2015.
Article in English | WPRIM | ID: wpr-150486

ABSTRACT

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.


Subject(s)
Activities of Daily Living , Adult , Age of Onset , Asian Continental Ancestry Group/genetics , Bulbo-Spinal Atrophy, X-Linked/genetics , Disease Progression , Female , Genes, Recessive , Genetic Association Studies , Genotype , Humans , Male , Middle Aged , Muscle Weakness/physiopathology , Muscular Atrophy, Spinal , Muscular Disorders, Atrophic/genetics , Phenotype , Receptors, Androgen/genetics , Republic of Korea , Trinucleotide Repeats/genetics
11.
Acta Pharmaceutica Sinica ; (12): 500-505, 2015.
Article in Chinese | WPRIM | ID: wpr-251750

ABSTRACT

A total of 12 775 SSRs were identified from Scutellaria baicalensis Georgi genomic database, accounting for 2.56% of the total genomic sequences. The result showed that S. baicalensis SSRs were based on 68.32% dinucleotide and 18.63% trinucleotide repeats; CT/GA and TTC/GAA were predominant in the dinucleotide motifs and the trinucleotide motifs respectively. Nine primers were selected to produce highly reproducible SSR bands and were used in studying the genetic diversity of S. baicalensis, 50 individuals from ten populations. 68 SSR polymorphic loci were detected, these loci were polymorphic and displayed 4 to 12 alleles per locus with a mean number of 7; the effect number of alleles was 3. Expected heterozygosities were 0.6 and were far more greater than the average in dicotyledonous plants. PIC (polymorphism information content) was 0.72, Shannon's information index was 1.32, these all proved that S. baicalensis had a high genetic diversity in general. Genetic differentiation among population Gst was 0.131, genetic variation among population accounted for 13.1% and genetic variation within population accounted for 86.9%. The cluster analysis showed that 10 populations S. Baicalensis were classified into 2 groups, but it was not associated with geographical distribution.


Subject(s)
Alleles , Cluster Analysis , Genetic Variation , Genomics , Microsatellite Repeats , Scutellaria baicalensis , Genetics , Trinucleotide Repeats
12.
Article in English | WPRIM | ID: wpr-18087

ABSTRACT

PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. MATERIALS AND METHODS: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A , and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. RESULTS: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, 24+/-4 copies) for SCA8, 7-18 copies (average, 13+/-3 copies) for SCA12, and 26-43 copies (average, 35+/-2 copies) for SCA17. CONCLUSION: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.


Subject(s)
Asian Continental Ancestry Group , Cohort Studies , Electrophoresis, Capillary , Fluorescence , Humans , Korea , Neurodegenerative Diseases , Polymerase Chain Reaction , Prevalence , Repetitive Sequences, Nucleic Acid , Spinocerebellar Ataxias , Trinucleotide Repeats , Wills
13.
Article in Chinese | WPRIM | ID: wpr-254490

ABSTRACT

<p><b>OBJECTIVE</b>To develop an optimal sequencing system which can improve the resolution of sequencing G-C rich DNA with abundant trinucleotide repeats by applying concentration gradients of betaine to the Sanger sequencing system.</p><p><b>METHODS</b>Concentration gradients of betaine were introduced into the sequencing system by taking the 5' terminal of Nogo-B cDNA (Am-Nogo-B) (G-C%=72%, without trinucleotide repeats) and 5' terminal of Huntingtin cDNA (Am-HTT) (G-C%=74%, with abundant CAG and CCG repeats) the results of sequencing were compared.</p><p><b>RESULTS</b>The optimum concentration of betaine for sequencing Am-Nogo-B has differed from that for Am-HTT. Result of sequencing Am-Nogo-B has achieved the best quality when the concentration of betaine was at 0.8-1.2 mol/L, whereas the result of sequencing Am-HTT obtained the best quality when the concentration of betaine was at 1.6 -2.4 mol/L. The results were reproducible.</p><p><b>CONCLUSION</b>G-C rich DNA with similar G-C% required different concentrations of betaine in the sequencing system due to base pair compositions. The sequencing system developed for improving the resolution of sequencing of G-C rich DNA with abundant trinucleotide repeats can be used as a reference for similar studies.</p>


Subject(s)
Base Sequence , Betaine , Pharmacology , Huntingtin Protein , Molecular Sequence Data , Nerve Tissue Proteins , Genetics , Sequence Analysis, DNA , Methods , Trinucleotide Repeats
14.
National Journal of Andrology ; (12): 172-176, 2014.
Article in Chinese | WPRIM | ID: wpr-267955

ABSTRACT

<p><b>OBJECTIVE</b>To explore the association of the androgenic receptor (AR) CAG repeats with the risks of benign prostatic hyperplasia (BPH) and prostate cancer (PCa).</p><p><b>METHODS</b>We searched the major databases at home and abroad for the literature addressing the correlation of the AR gene CAG repeats with BPH and PCa. Based on the results of heterogeneity tests, we used the M-H fixed effect model and random effect model to pool the odds ratio (OR) effect size. We evaluated publication bias by Begg and Egger bias analysis, investigated the association of CAG repeats with the risks of BPH and PCa by systematic review, and stratified their relationship according to the races of the patients.</p><p><b>RESULTS</b>Based on the selection criteria, 4 of the 29 identified studies were included, with 485 cases of BPH, 767 cases of PCa, and 709 controls. There was no heterogeneity between the BPH and control groups, and no correlation between short CAG repeats and BPH after pooling the odds ratio (OR) effect size. Heterogeneity was found among the BPH, PCa and control groups. Random effects model suggested an association of short CAG repeats with the risk of PCa (OR(PCa/control) = 1.45, OR(PCa/BPH) = 1.86, OR(PCa/(BPH + control)) = 1.66), while subgroup analysis with racial stratification indicated inter-ethnic differences between the two. Begg and Egger bias analysis showed no significant publication bias.</p><p><b>CONCLUSION</b>Shorter CAG repeats are positively correlated with the risk of PCa but not with that of BPH.</p>


Subject(s)
Humans , Male , Polymorphism, Genetic , Prostatic Hyperplasia , Genetics , Prostatic Neoplasms , Genetics , Receptors, Androgen , Genetics , Trinucleotide Repeats
15.
Article in English | WPRIM | ID: wpr-83556

ABSTRACT

PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. MATERIALS AND METHODS: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. RESULTS: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was 45+/-8.5 for SCA1, 42+/-3.1 for SCA2, 72+/-5.4 for SCA3, 23+/-1.5 for SCA6, and 50+/-11.4 for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. CONCLUSION: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.


Subject(s)
Age of Onset , Alleles , Diagnosis , Humans , Spinocerebellar Ataxias , Trinucleotide Repeats
16.
Article in English | WPRIM | ID: wpr-163311

ABSTRACT

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.


Subject(s)
3' Untranslated Regions , Atrioventricular Block/complications , Blood Gas Monitoring, Transcutaneous , Chromosomes, Human, Pair 9 , Electrocardiography , Female , Humans , Infant, Newborn , Myotonic Dystrophy/complications , Myotonin-Protein Kinase/genetics , Trinucleotide Repeats
17.
Braz. j. med. biol. res ; 46(8): 722-727, ago. 2013. tab, graf
Article in English | LILACS | ID: lil-684526

ABSTRACT

Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to healthy, individuals could lead to the development of useful tools for evaluating the progression of disease, or to the advance of investigations of different/alternative treatments. The aim of this study was to compare the thalamic concentration of metabolites in HD patients and healthy individuals using magnetic resonance spectroscopy. We used a 2.0-Tesla magnetic field, repetition time of 1500 ms, and echo time of 135 ms. Spectra from 40 adult HD patients and 26 control subjects were compared. Quantitative analysis was performed using the LCModel method. There were statistically significant differences between HD patients and controls in the concentrations of N-acetylaspartate+N-acetylaspartylglutamate (NAA+NAAG; t-test, P<0.001), and glycerophosphocholine+phosphocholine (GPC+PCh; t-test, P=0.001) relative to creatine+phosphocreatine (Cr+PCr). The NAA+NAAG/Cr+PCr ratio was decreased by 9% and GPC+PCh/Cr+PCr increased by 17% in patients compared with controls. There were no correlations between the concentration ratios and clinical features. Although these results could be caused by T1 and T2 changes, rather than variations in metabolite concentrations given the short repetition time and long echo time values used, our findings point to thalamic dysfunction, corroborating prior evidence.


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Huntington Disease/metabolism , Magnetic Resonance Spectroscopy , Thalamic Diseases/metabolism , Thalamus/physiopathology , Aspartic Acid/analysis , Aspartic Acid/analogs & derivatives , Case-Control Studies , Creatine/analysis , Deuterium , Dipeptides/analysis , Glycerylphosphorylcholine/analysis , Motor Activity , Phosphocreatine/analysis , Phosphorylcholine/analysis , Trinucleotide Repeats , Thalamic Diseases/diagnosis
18.
Article in Chinese | WPRIM | ID: wpr-232211

ABSTRACT

<p><b>OBJECTIVE</b>To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.</p><p><b>METHODS</b>Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.</p><p><b>RESULTS</b>Expanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.</p><p><b>CONCLUSION</b>Only three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.</p>


Subject(s)
Adolescent , Adult , Aged , Asian Continental Ancestry Group , Brain , Pathology , Child , Child, Preschool , China , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Mutation , Myoclonic Epilepsies, Progressive , Diagnosis , Genetics , Nerve Tissue Proteins , Genetics , Pedigree , Phenotype , Trinucleotide Repeats , Young Adult
19.
Article in Chinese | WPRIM | ID: wpr-237248

ABSTRACT

<p><b>OBJECTIVE</b>To compare the distribution of (CAG)n and (GGN)n repeats polymorphisms of androgen receptor (AR) gene between Hui and Han ethnic Chinese from Ningxia.</p><p><b>METHODS</b>Genotypes of above repeats were determined with DNA sequencing method.</p><p><b>RESULTS</b>The distribution of (GGN)n repeats was significantly different between the two ethnic groups (P< 0.01), though no such difference was detected with (CAG)n repeats (P> 0.05). Particularly, Han Chinese women carrying 23 GGN repeats were significantly fewer (48.4%) than Hui women (64.7%, P=0.01).</p><p><b>CONCLUSION</b>The distribution of GGN repeat is significantly differently among Hui and Han Chinese ethnics from Ningxia.</p>


Subject(s)
Alleles , Asian Continental Ancestry Group , Genetics , Base Sequence , China , Ethnology , Female , Genotype , Humans , Male , Molecular Sequence Data , Polymorphism, Genetic , Population Groups , Genetics , Receptors, Androgen , Genetics , Trinucleotide Repeat Expansion , Trinucleotide Repeats
20.
Article in English | WPRIM | ID: wpr-102397

ABSTRACT

BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT: Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8. CONCLUSIONS: Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.


Subject(s)
Amyotrophic Lateral Sclerosis , Atrophy , Brain , Cerebellar Ataxia , Cerebellum , Gait , Humans , Neurodegenerative Diseases , Neurons , Parkinson Disease , Parkinsonian Disorders , Phenotype , Siblings , Spinocerebellar Ataxias , Spinocerebellar Degenerations , Trinucleotide Repeats
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