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At least 19 recordsLinked to original sources

PubMed1993

Cross-language influence on the production of Mandarin /f/ and /x/ and Taiwanese /h/ by native speakers of Taiwanese Amoy.

The present study examines the patterns of interference between a first (here, Amoy) and second language (here, Mandarin) by comparing the production of a Mandarin phone [f] (a 'new' phone) with another Mandarin phone [x] (which is 'similar' to an Amoy phone [h]) by three groups of native Amoy subjects differentiated by proficiency in Mandarin. Their Mandarin production was also compared to that of Mandarin monolinguals. The spectrum of each consonant was analyzed to show the frequency range and energy of the fricative. In general, native Amoy speakers interpreted Mandarin /f/ and /x/ in terms of their first language phones [hw], but showed different patterns of interference for different proficiency levels. The least proficient simply substituted the Amoy phones for the Mandarin. More proficient speakers could approximate the Mandarin monolingual phonetic norm for the 'new' phone [f] more accurately than for the 'similar' phone [x]. The most proficient showed little Amoy-to-Mandarin interference on even the 'similar' phone [x]. On the other hand, the most proficient showed some interference from Mandarin /x/ on their Amoy production.

China↗

PubMed2003

Low body mass index but high percent body fat in Taiwanese subjects: implications of obesity cutoffs.

OBJECTIVES: To compare the different correlations of body mass index (BMI) and percent body fat (BF%) with other ethnic groups and to evaluate the appropriateness of Asia-Pacific redefining obesity criteria in the Taiwanese population. The corresponding BF% to BMI cutoffs of overweight and obesity will also be studied. DESIGN: A cross-sectional epidemiological survey. SUBJECTS: A total of 509 male and 570 female Taiwanese subjects aged > or =20 y sampled by the systematic stratified clustering sampling method were analyzed. MEASUREMENTS: BMI was obtained by body weight (kg) divided by squared body height (m(2)). The estimated BMI (BMIe) was deduced from the Caucasian-based four-compartment equation (4C). BF% measured by the methods of dual-energy X-ray absorptiometry (DXA) or Caucasian-based 4C were used and abbreviated as DXA-BF and 4C-BF, respectively. RESULTS: The curvilinear relationship between age and BMI or DXA-BF was established. When compared by age-stratified groups, Taiwanese subjects had a higher BF% (4C-BF) in any given BMI than Caucasians. That is, the level of 4C-BF for BMI> or =25 kg/m(2) in Taiwanese subjects was similar to BMI> or =30 kg/m(2) in Caucasians. The BMIe values of 25 and 30 kg/m(2) were nearly equal to the BMIs of 23.6 and 25.3 kg/m(2) in males, and 22.7 and 24.8 kg/m(2) in females, respectively. The 4C-BF of 25% was nearly equal to a BMI of 26.2 kg/m(2) in males, and 35% was equal to a BMI of 24.4 kg/m(2) in females. Consequently, the DXA-BF cutoffs for BMIs of 23 and 25 kg/m(2) were compatible to 23 and 25% in males, and 35 and 38% in females, respectively. CONCLUSION: It was demonstrated that Taiwanese subjects had a relatively lower BMI but a higher BF% than Caucasians. In general, the newly proposed Asia-Pacific BMI cutoffs for overweight (> or =23 kg/m(2)) and obesity (> or =25 kg/m(2)) may be acceptable to both male and female Taiwanese subjects. The corresponding BF% (DXA-BF) cutoffs for obesity would be 25% in male and 38% in female Taiwanese subjects, respectively.

Absorptiometry, Photon↗

PubMed2001

Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.

BACKGROUND: Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders. The mutational basis for most of these disorders is an expanded CAG repeat sequence within the coding regions of the genes involved. The prevalence of SCA in the ethnic Chinese on Taiwan remains unclear. Moreover, there has been no report of SCA type 6 (SCA6) among Chinese people. OBJECTIVES: To characterize the prevalence of SCA in the ethnic Chinese on Taiwan, and to specifically characterize Chinese patients with SCA6 in terms of clinical and molecular features. PATIENTS AND METHODS: Using a molecular approach, we investigated SCA in 74 Taiwanese families with dominantly inherited ataxias and in 49 Taiwanese patients with sporadic ataxias. Clinical and molecular features of SCA6 were further characterized in 12 patients from 8 families and in 2 sporadic cases. Furthermore, the intragenic polymorphic marker D19S1150 was amplified by polymerase chain reaction to analyze for linkage disequilibrium. RESULTS: Machado-Joseph disease-SCA3 was the most common type of autosomal dominant SCA in the Taiwanese cohort, accounting for 35 cases (47.3%), followed by SCA6 (8 [10.8%]), SCA2 (8 [10.8%]), SCA1 (4 [5.4%]), SCA7 (2 [2.7%]), dentatorubropallidoluysian atrophy (1 [1.4%]), and SCA8 (0%). The genes responsible for 16 (21.6%) of Taiwanese dominantly inherited SCA cases remain to be determined. Among the 49 patients with sporadic ataxias in the present series, 2 (4.1%) were found to harbor SCA6 mutations. In the families with SCA6, we found significant anticipation in the absence of genetic instability on transmission, indicating that some other mechanism might account for the anticipation. The same frequent allele of the intragenic DNA marker (D19S1150) was shared by 7 of 10 Taiwanese families with SCA6. CONCLUSIONS: Although SCA6 has, so far, not been reported in mainland Chinese, we found a geographic cluster of families with SCA6 on Taiwan. Genotyping studies suggest a founder effect in the Taiwanese patients with SCA6.

Adult↗

PubMed2006

Correlation between serum prostate specific antigen and prostate volume in Taiwanese men with biopsy proven benign prostatic hyperplasia.

PURPOSE: We studied the correlation between serum prostate specific antigen and the volume of different zones of the prostate in Taiwanese men with biopsy proven benign prostatic hyperplasia. MATERIALS AND METHODS: A total of 233 patients with a mean age of 71.4 years (range 42 to 89), serum prostate specific antigen less than 10 ng/ml and pathologically confirmed benign prostatic hyperplasia were enrolled in this study. Total prostate and transitional zone volumes were measured with transrectal ultrasonography. Peripheral zone volume was determined by subtracting transitional zone volume from total prostate volume. Correlations between patient age, total serum prostate specific antigen and the volume of each prostate zone were analyzed with the Pearson correlation coefficient. A linear regression model was used to determine the relationship between prostate specific antigen and prostate volume. The prostate specific antigen-prostate volume relationship in our patients was compared with published data on white and Japanese men. RESULTS: Age did not significantly correlate with serum prostate specific antigen and prostate volume. Serum prostate specific antigen significantly correlated with the volume of each prostate zone. After log transformation the Pearson correlation coefficient between total prostate specific antigen and the volume of the whole prostate gland, the transitional zone and the peripheral zone were 0.369, 0.377 and 0.272, respectively (p <0.001). Taiwanese men had lower prostate volume per unit prostate specific antigen comparing with white men, while the prostate specific antigen-total prostate volume relationship between Taiwanese and Japanese men was similar. CONCLUSIONS: In Taiwanese men with biopsy proven benign prostatic hyperplasia the volume of each prostate zone has significantly correlates with serum prostate specific antigen. The prostate specific antigen-total prostate volume relationship in Taiwanese men is different from that in white men. However, the prostate specific antigen-total prostate volume relationship between Taiwanese and Japanese men is similar.

Adult↗

PubMed2006

Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients.

Apoptosis is important in the pathogenesis of systemic lupus erythematosus (SLE). Several genome-wide scan studies have suggested chromosome 1q as a genetic susceptibility locus for SLE. This study investigated the association of apoptosis-related genes on chromosome 1q, Fas ligand (FasL), interleukin (IL)-10 and poly(ADP-ribose) polymerase (PARP), promoter microsatellite multi-allelic polymorphisms with SLE susceptibility and clinical characteristics in Taiwan. This study recruited 237 SLE patients and 304 healthy controls. FasL, IL-10 and PARP promoter microsatellite polymorphisms were genotyped employing gene scan. IL-10, located on 1q31-32, emerged as a significant susceptibility gene locus in Taiwanese SLE (T4 statistic = 0.01). IL-10 CA21 allele was the most common allele of 15 identified in Taiwanese, displaying skewed distribution of susceptibility in Taiwanese SLE patients. Conversely, the IL-10 CA20 allele showed a protective effect of SLE susceptibility. Additionally, the IL-10 CA26 allele displayed a negative significant association with ascites and IL-10 CA25 allele increased the occurrence of the anti-cardiolipin IgM antibody. This study identified five alleles of FasL and nine alleles of PARP of microsatellite polymorphisms in Taiwanese patients. FasL and PARP alleles displayed no skewing distribution between Taiwanese SLE patients and controls. However, FasL GT15 and PARP CA17 allele demonstrated a high discoid rash presentation (T4 statistic 0.01 and 0.03, respectively) and PARP CA12 allele displayed a significant association with anti-cardiolipin IgM antibody production (T4 statistic 0.02). IL-10, FasL and PARP microsatellite polymorphisms exhibited significant associations with SLE susceptibility and/or clinical characteristics in Taiwanese patients. Thus, SLE is a complex and multiple genetics determined autoimmune disease. Chromosome 1q23-42 is an important genetic locus for further SLE subphenotype susceptibility study.

Adolescent↗

PubMed2005

Significant difference in the trends of female breast cancer incidence between Taiwanese and Caucasian Americans: implications from age-period-cohort analysis.

Female invasive breast cancer (FIBC) in Taiwan is characterized by a striking recent increase of incidence and a relatively young median age (45-49 years) at diagnosis. The Westernization of lifestyle that is increasingly affecting younger generations of Taiwanese may have an important impact on this change. We compared epidemiologic data on FIBC in Taiwanese obtained from the Taiwan Cancer Registry with data for Caucasian Americans obtained from the database of the Surveillance, Epidemiology, and End Results Program for the period from 1980 to 1999. Age-specific incidence rates of FIBC were plotted by calendar year at diagnosis and by birth cohort for both populations. The individual effects of time period and birth cohort on the incidence trends of FIBC in both populations were evaluated using the age-period-cohort analysis. The incidence rate of FIBC was continuously increased in Taiwanese throughout the past 2 decades, whereas the increase of incidence was slowing down in Caucasian Americans. The incidence rates in Taiwanese women born after the 1960s were approaching that of Caucasian Americans. The age-period-cohort analysis showed a much stronger birth cohort effect on the incidence trend of FIBC in Taiwanese than in Caucasian Americans. This strong birth cohort effect corresponded to the Westernization of lifestyle in Taiwan since 1960. These findings indicate that a continued shift in the incidence and age distribution pattern of FIBC in Taiwanese toward that of Caucasian Americans should be anticipated.

Adult↗

PubMed2000

Lewis (FUT3) genotypes in Taiwanese, Thai, and Filipino populations.

The Lewis (Le) blood type comprises two major antigens, Le(a) and Le(b), which are encoded by alpha (1,2)-fucosyltransferase (FUT2) and a (1,3/1,4)-fucosyl-transferase (FUT3). In this study, we analyzed the mutations of FUT3 in Taiwanese, Thai, and Filipino populations and correlated these with serologic phenotypes. One hundred and thirty-seven Taiwanese, 71 Thai, and 125 Filipino were studied unselectively. The frequency of the normal and four other mutant alleles for Taiwanese, Thai, and Filipino, respectively, were as follows: 187/274 (68.2%), 87/142 (61.3%), and 160/250 (64.0%) were wild type (Le); 14/274 (5.1%), 1/142 (0.7%), and 1/250 (0.4%) were a T202C/C314T mutation (le202,314); 35/274 (12.8%), 15/142 (10.6%), and 22/250 (8.8%) had the G508A mutation (le508); and 38/274 (13.9%), 39/142 (27.4%), and 67/250 (26.8%) carried the T1067A mutation (le1067). The le445 and le1007 were not detected in this study. Our result provided the first genetic data of the FUT3 gene in these three populations, and the frequency distribution of mutant alleles among Taiwanese, Thai, and Filipinos demonstrates a significant difference (P<0.001). In our study, the le202,314 mutation had considerable frequency in the Taiwanese, but the le1067 mutation had a higher frequency in Thai and Filipinos.

Adult↗

PubMed2006

Comparison of health-promoting behavior between Taiwanese and American adolescents: a cross-sectional questionnaire survey.

OBJECTIVES: The main aim of this study was to compare the health promotion practices of Taiwanese (n=265) and American (n=285) adolescents, using the revised Adolescent Health Promoting scale. METHODS: A comparative and descriptive design was used. Categorical data analysis was applied to explore the association of culture differences and adolescent health-promoting behaviors. RESULTS: Findings indicated significant differences between Taiwanese and American adolescents in some demographic characteristics: American participants had higher self-perceived health status (p<0.001), parental educational level (p<0.001), overweight percentage (p<0.001), and rate of living only with the mother (p<0.001) than the Taiwanese participants. Taiwanese adolescents had a higher frequency of health-promoting behavior than Americans in terms of healthy diet behavior, stress management, health responsibility, and social support (p<0.01), but less frequently engaged in exercise and life appreciation (p<0.001). Because many of the demographic characteristics between the two countries, such as the parent's educational level, differ significantly, a comparison can be difficult. However, healthy behavior is an important measure of demand for preventive health services. CONCLUSIONS: The findings should sound an alarm for all public health professionals to take heed of what is happening to our youth based on culture differences. School and family health promotion counseling should be encouraged for adolescents to improve their lifestyle habits. Based on the findings, school health promotion programs should focus on factors for which there may be significant local ethnic differences. For the locales in this study, Taiwanese adolescents need encouragement to improve their exercise and life appreciation behaviors. For American adolescents, healthy diet, stress management, health responsibility, and social support should be emphasized.

Adolescent↗

PubMed2000

The experiences of Taiwanese women caring for parents-in-law.

The experiences of Taiwanese women caring for parents-in-law Using grounded theory, semistructured in-depth interviews were conducted to explore the experiences of Taiwanese women who were caregivers for their parents-in-law. Thirty-one Taiwanese women aged 23-58 participated in this study. 'Just doing' emerged as the core category and reflected the Taiwanese women caregivers' process of striving to continue to fulfil the demands of their role during the period of commitment to their parents-in-law's care. The related categories surrounding the core category in the paradigm for this study include: being called, caring for, holding up, keeping harmony, and maintaining filial piety. 'Being called' reflected the reasons that these women became caregivers to their parents-in-law under circumstances heavily influenced by cultural expectations. 'Caring for' provided the context for activities involved in providing daily comfort, keeping watch and seeking assistance when necessary. The category of 'holding up' reflected the caregiver's interpretation of her duty, the extent of the difficulties she experienced and her responses to those difficulties. A philosophy of life, which strongly emphasizes 'keeping harmony' influenced how the caregiver interpreted her caregiving role and her ability to ask for assistance or more resources to overcome difficulties posed by the situation. Maintaining filial piety was identified as a primary duty, a lifelong commitment and a desired outcome. However, striving to achieve this outcome resulted in differing caregiver perceptions, ranging from serenity to personal self-sacrifice. The findings clearly suggested that caregiving behaviours were influenced by cultural expectations when the parent-in-law was ill. This study of Taiwanese women caregivers' experiences may be beneficial in facilitating the development of a comprehensive policy for long-term care as well as suggesting possible intervention strategies for individual and family care. Recommendations for future research focus on cultural determinants of caregiving roles and coping strategies.

Adaptation, Psychological↗

PubMed2001

Polymorphism and distribution of the Secretor alpha(1,2)-fucosyltransferase gene in various Taiwanese populations.

BACKGROUND: The Secretor gene (Se or FUT2), which produces alpha(1,2)-fucosyltransferase, exhibits extensive polymorphism. Six Se genes, including the weak Se (Se(w) or Se385) and three nonsecretor alleles (se571, se685, and se849) have been detected in various populations of Taiwan. The distribution of various Lewis phenotypes among the Taiwanese population groups has been shown to vary considerably. STUDY DESIGN AND METHODS: A PCR-RFLP analysis system, which was based on the nucleotide polymorphism variation of the different Se alleles and which can reveal the Se genotype of an individual easily and accurately, was developed. The distribution of the Se alleles among Taiwanese population groups, including the two major populations, Minnan and Hakka Taiwanese, and 11 indigenous groups, was analyzed by the method. RESULTS: Frequencies of the Se alleles among the Taiwanese populations were revealed. The distribution of the nonsecretor alleles, especially se849, showed a marked variation. A good correlation was observed between a person's Se genotype and Lewis phenotype. CONCLUSION: The Se genes have a polymorphic distribution among various Taiwanese populations, and this agrees with previous results for Lewis phenotype distributions. The Se(w) allele and the three se alleles are responsible for the Le(a+b+) and Le(a+b-) phenotypes, respectively.

Fucosyltransferases↗

PubMed1998

Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes.

Previous studies of mtDNA variation in indigenous Taiwanese populations have suggested that they held an ancestral position in the spread of mtDNAs throughout Southeast Asia and Oceania (Melton et al. 1995; Sykes et al. 1995), but the question of an absolute proto-Austronesian homeland remains. To search for Asian roots for indigenous Taiwanese populations, 28 mtDNAs representative of variation in four tribal groups (Ami, Atayal, Bunun, and Paiwan) were sequenced and were compared with each other and with mtDNAs from 25 other populations from Asia and Oceania. In addition, eight polymorphic Alu insertion loci were analyzed, to determine if the pattern of mtDNA variation is concordant with nuclear DNA variation. Tribal groups shared considerable mtDNA sequence identity (P>.90), where gene flow is believed to have been low, arguing for a common source or sources for the tribes. mtDNAs with a 9-bp deletion have considerable mainland-Asian diversity and have spread to Southeast Asia and Oceania through a Taiwanese bottleneck. Only four Taiwanese mtDNA haplotypes without the 9-bp deletion were shared with any other populations, but these shared types were widely dispersed geographically throughout mainland Asia. Phylogenetic and principal-component analyses of Alu loci were concordant with conclusions from the mtDNA analyses; overall, the results suggest that the Taiwanese have temporally deep roots, probably in central or south China, and have been isolated from other Asian populations in recent history.

Alleles↗

PubMed2004

Body mass index and obesity-related metabolic disorders in Taiwanese and US whites and blacks: implications for definitions of overweight and obesity for Asians.

BACKGROUND: Recommendations based on scanty data have been made to lower the body mass index (BMI; in kg/m(2)) cutoff for obesity in Asians. OBJECTIVE: The goal was to compare relations between BMI and metabolic comorbidity among Asians and US whites and blacks. METHODS: We compared the prevalence rate, sensitivity, specificity, predictive values, and impact fraction of comorbidities at each BMI level and the BMI-comorbidity relations across ethnic groups by using data from the third National Health and Nutrition Examination Survey and the Nutrition and Health Survey in Taiwan (1993-1996). RESULTS: For most BMI values, the prevalences of hypertension, diabetes, and hyperuricemia were higher for Taiwanese than for US whites. In addition, increments of BMI corresponded to higher odds ratios in Taiwanese than in US whites for hypertriglyceridemia (P = 0.01) and hypertension (P = 0.075). BMI-comorbidity relations were stronger in Taiwanese than in US blacks for all comorbidities studied. BMIs of 22.5, 26, and 27.5 were the cutoffs with the highest sum of positive and negative predictive value for Taiwanese, US white, and US black men, respectively. The same order was observed for women. For BMIs >27, >85% of Taiwanese, 66% of whites, and 55% of blacks had at least one of the studied comorbidities. However, a cutoff close to the median of the studied population was often found by maximizing sensitivity and specificity. Reducing BMI from >25 to <25 in persons in the United States could eliminate 13% of the obesity comorbidity studied. The corresponding cutoff in Taiwan is slightly <24. CONCLUSION: These data suggest a possible need to set lower BMI cutoffs for Asians, but where to draw the line is a complex issue.

Adult↗

PubMed2003

A qualitative inquiry of Taiwanese children's pain experiences.

Little information was found in studying Taiwanese children's pain experiences. Because pain is culturally shaped, health care providers should not assume Taiwanese children's pain to be identical to those of children in the US. Thus, a qualitative descriptive study with semi-structured interview of 90 hospitalized Taiwanese children with acute pain was conducted to understand Taiwanese children's pain experiences. Krippendorff's (1980) content analysis was used to guide the data analysis. Seven themes from the interview data were presented, including definition of pain, quality of pain, previous pain experiences, pain expectation, pain acceptance, causes of pain and meaning of pain. Surprisingly, the results of this study revealed few differences in the experiences and meanings of pain. Most results are consistent with the studies done in the US. Differences are minor, including the interpretation of children's crying and how Taiwanese parents talk with their children about pain, and are probably related to the sample sizes and methodology of the studies. Further research is necessary about the influence of culture upon children's pain experiences.

Acute Disease↗

PubMed2004

Nasality in Taiwanese.

This study used perceptual and articulatory data to investigate a language specific phonemic inventory, and allophonic rules for homorganic initial voiced stops versus homorganic nasal stops, and oral versus nasal vowels in Taiwanese. Four experiments were conducted: concept formation, gating, and two airflow studies. Results of a first nasal airflow study on syllable initial voiced stops and nasal stops showed that initial voiced stops were nasalized when preceded by a nasal consonant across a word boundary. Results of a concept formation experiment indicated that Taiwanese listeners grouped homorganic voiced stops and nasal stops into the same category. A gating experiment showed that subjects were insensitive to the phonetic differences between homorganic voiced stops and nasal stops. The presence or absence of nasality within the vowel nucleus was the crucial cue to the identification of oral and nasal syllables. A second nasal airflow study on vowel nuclei demonstrated that oral vowels were nasalized at their onset and offset when preceded or followed by a nasal consonant respectively. The distinction between oral and nasal vowels was maintained at the center of the vowel nuclei. By classifying homorganic initial voiced stops and nasal stops into the same category, Taiwanese speakers were able to ignore the phonetic difference between them and relied on the distinction between nasal vowel versus oral and nasalized vowel to distinguish between nasal versus oral syllables. Taiwanese speakers produced a clear distinction between oral and nasal vowels to retain the crucial role that oral versus nasal contrasts on vowel nuclei played during perception experiments. This study offers phonetic evidence to answer the controversial nasality issue in Taiwanese. Furthermore, a link was found between perception and extent of application of allophonic rules during production.

Adult↗

PubMed2003

Small invasive breast carcinomas in Taiwanese women.

BACKGROUND: Female Taiwanese breast cancer patients are younger than their Western counterparts. This study examined the predictors of axillary lymph node metastases in Taiwanese women with T1 breast cancer. METHODS: Data from 394 Taiwanese women with T1 invasive breast carcinoma were retrospectively reviewed. RESULTS: The data contained 6 T1a, 51 T1b, and 337 T1c breast tumors. The patients' ages ranged from 23 to 82 years (mean +/- SD, 48.2 +/- 11.4 years; median, 46.4 years). Axillary nodal metastases were present in 38.3% of the patients (16.7% in T1a, 35.3% in T1b, and 39.2% in T1c tumors). The patients with nodal metastases had significantly greater body weights and S-phase fractions than those without nodal metastases. Univariate analysis revealed that unfavorable pathology, lymphovascular invasion, S-phase fraction >7%, and nondiploid DNA ploidy were significantly associated with lymph node metastases. Lymphovascular invasion was the only significant variable as the independent predictor in the multiple logistic regression analysis. In the Cox proportional hazards regression analysis, axillary nodal status and lymphovascular invasion were significantly associated with survival. CONCLUSIONS: Taiwanese women with small breast cancer displayed a relatively higher incidence of axillary lymph node metastases than Western women. Axillary lymph node dissection or sentinel lymph node biopsy should be conducted on Taiwanese patients with small invasive breast carcinomas, particularly when risk factors exist.

Adult↗

PubMed1997

Cross-cultural measurement of experience: Taiwanese and Americans' peak performance, peak experience, misery, failure, sport, and average events.

To compare Taiwanese and Americans on selected experiential personality dimensions, the Experience Questionnaire was translated and tested with 27 Taiwanese in an American university. Descriptions by 129 Taiwanese of peak performance, peak experience, misery, failure, sport, and average events were compared with those made by 123 Americans. Analysis of variance with repeated measures of factors indicated that both samples uniformly characterized processes of peak performance as full focus with clarity of self in process. The Taiwanese considered failure more significant than the Americans who denied clarity of self in misery and failure and more generally endorsed peak experience than the Taiwanese. The study extends the credibility of experience: experiential events can simultaneously have cross-cultural generality and inner processes that are culturally sensitive.

Adult↗

PubMed2002

Polymorphism and heteroplasmy of mitochondrial DNA in the D-loop region in Taiwanese.

BACKGROUND AND PURPOSE: Although the displacement loop (D-loop) of mitochondrial DNA (mtDNA) is known to have a large number of sequence variations, data on this variation are lacking. This study investigated D-loop sequence polymorphism in Taiwanese subjects. METHODS: The D-loop mtDNA region was amplified from whole blood samples of 63 unrelated Taiwanese individuals using the polymerase chain reaction (PCR). PCR products were sequenced and analyzed. Sequence electropherograms of nucleotides 303 to 315 that showed particularly high background after C-stretch were subcloned to the PGEM-TE vector for sequencing analysis. RESULTS: A total of 126 variable sites in 788 polymorphisms including 19 novel sites were found. The genetic diversity of the highly variable region (HVR)-I, HVR-II, HVR-III, and a region elsewhere were 0.999, 0.993, 0.850, and 0.707, respectively. The power of discrimination of these regions was 0.983, 0.977, 0.837, and 0.696, respectively. Both HVR-I and HVR-II contained segments of homopolymeric sequence. A high frequency (30%) of heteroplasmy made up of cytosine between nucleotides 303 and 315 appeared to be a unique feature of the Taiwanese population. Nucleotide substitutions at position 16,362 (T to C) in HVR-I have been found with high frequency in Taiwanese. CONCLUSION: In this study, 19 polymorphisms in the D-loop of mtDNA in Taiwanese were newly identified, and an unusually high frequency of heteroplasmy was found in the region between nucleotides 303 and 315 in this population.

DNA, Mitochondrial↗

PubMed1996

Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype correlations have been developed and used to guide genetic counseling and therapy. Only a few mutations have been described in Japanese patients with Gaucher disease and many of these have resulted in severe phenotypes. Although rare, Gaucher Disease occurs in Korean and Chinese (Taiwanese) populations. Sequencing of RT-PCR cDNAs from five unrelated Korean and two sibling Chinese (Taiwanese) Gaucher type 1 patients identified three new Gaucher disease mutations. These disease alleles encoded V15L, G46E, and N188S substitutions leading to dysfunctional acid beta-glucosidases. The G46E was present in two Korean patients and the N188S allele was present in the Korean and Chinese (Taiwanese) populations, suggesting an ancient mutation. The commonality of these two mutations in the Korean and Chinese (Taiwanese) population indicates the need for more extensive screening for these mutations in the Gaucher populations.

Adolescent↗