Publications (27)45.65 Total impact
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Article: Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system.
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ABSTRACT: To present the prenatal genetic diagnoses and counseling for two cases of oculocutaneous albinism (OCA) type I family by detection of mutations in the OCA1 gene by denaturing high performance liquid chromatography (DHPLC) system and a review of the literature. All DNA samples were extracted from peripheral whole blood and amniocentesis-derived cells. Mutation analysis was performed for all five coding exons of the TYR gene, which were amplified by PCR. DHPLC was used for heteroduplex detection and sequence analysis was performed to demonstrate the mutation loci. Case 1: After sampling of blood from the family members and performing amniocentesis of the fetus, it was demonstrated that the affected boy and the female fetus were shown to be compound heterozygotes for mutations in the TYR gene. In addition, it was shown that the parents were carriers of the two mutations. However, the couple chose to keep the baby. Case 2: Mutation analysis of the DNA of the siblings revealed two heterozygous mutations in the TYR gene. Her husband is free of the disease. According to the principles of autosomal recessive inheritance, the incidence of affected offspring is very low. Herein we introduce a novel application for molecular diagnostic of DHPLC coupled with direct sequencing, which can provide an effective and exact diagnosis in patients with albinism. Clinicians should be cognizant of the risk of OCA inheritance by the offspring through careful identification of genetic mutations and the inheritance mode, both important to ensure comprehensive genetic counseling.Prenatal Diagnosis 06/2006; 26(5):466-70. · 2.11 Impact Factor -
Article: Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
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ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of multiple hamartomas in many internal organs. Mutations in either one of 2 genes, TSC1 and TSC2, have been attributed to the development of TSC. More than two-thirds of TSC patients are sporadic cases, and a wide variety of mutations in the coding region of the TSC1 and TSC2 genes have been reported. Mutational analysis of TSC1 and TSC2 genes was performed in 84 Taiwanese TSC families using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing. Mutations were identified in a total of 64 (76 %) cases, including 9 TSC1 mutations (7 sporadic and 2 familial cases) and 55 TSC2 mutations (47 sporadic and 8 familial cases). Thirty-one of the 64 mutations found have not been described previously. The phenotype association is consistent with findings from other large studies, showing that disease resulting from mutations to TSC1 is less severe than disease due to TSC2 mutation. This study provides a representative picture of the distribution of mutations of the TSC1 and TSC2 genes in clinically ascertained TSC cases in the Taiwanese population. Although nearly half of the mutations identified were novel, the kinds and distribution of mutation were not different in this population compared to that seen in larger European and American studies.BMC Medical Genetics 02/2006; 7:72. · 2.33 Impact Factor -
Article: Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.
Clinical Chemistry 08/2005; 51(7):1252-6. · 7.91 Impact Factor -
Article: Pure primary squamous cell carcinoma of the ovary: a case report and review of the literature.
Acta Obstetricia Et Gynecologica Scandinavica 08/2005; 84(7):706-8. · 1.77 Impact Factor -
Article: Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
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ABSTRACT: Achondroplasia is a common form of human dwarfism with characteristically rhizomelic shortening of extremities and relative macrocephaly. It is transmitted as an autosomally dominant inheritance, and about 80% of affected individuals result from sporadic mutations without positive family histories. Achondroplasia comes from the genetic point mutations in the fibroblastic growth factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate differentiation and insufficient bony development. The most common genetic mutations in this receptor are G to A at position 1138 (G1138A), which result in the substitution of glycine to arginine at codon 380. Based on genetic information, molecular genetic testing can provide an exact diagnosis comparing to radiological and prenatal ultrasound evaluations. Here we introduce denaturing high-performance liquid chromatography (DHPLC) for the detection of 17 cases of achondroplasia and 120 unaffected cases. After coupling heteroduplex and fluorescence-enhanced primer-extension analysis, all affected patients with G1138A were identified successfully. In conclusion, we demonstrated that DHPLC is an efficient, accurate, and sensitive technique to detect the single gene mutation of achondroplasia in clinical applications.Journal of Human Genetics 02/2004; 49(8):399-403. · 2.57 Impact Factor -
Article: Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system.
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ABSTRACT: To describe a family on whom it was possible to perform a rapid prenatal diagnosis for chronic granulomatous disease (CGD) using a denaturing high-performance liquid chromatography (DHPLC) system. For a family whose first-born, a boy, suffered from X-linked chronic granulomatous disease, fetal DNA was obtained from an ongoing pregnancy by amniocentesis early in the second trimester. Denaturing high-performance liquid chromatography and direct sequencing were used to attempt to detect the previously identified X-linked chronic granulomatous disease mutation. Our studies predicted that the fetus in question was not likely to be affected by chronic granulomatous disease, which was demonstrated to be correct at birth. Here, we introduce a molecular diagnostic tool (DHPLC) for an effective and exact prenatal diagnosis of normality for the second-born child, as determined from amniocentesis during the second trimester.Prenatal Diagnosis 01/2004; 23(13):1092-6. · 2.11 Impact Factor -
Article: Serum mesothelin in epithelial ovarian carcinoma: a new screening marker and prognostic factor.
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ABSTRACT: The aim of this study was to determine the relationship between mesothelin and clinical pathological characteristics and whether mesothelin can be used as a biomarker for the detection and prognosis of epithelial ovarian carcinoma, or not. Pre-operative mesothelin and CA125 levels from normal populations, patients with benign ovarian tumors and patients with ovarian carcinomas were measured. The histopathological characteristics and serum meosthelin, and CA125 levels influencing clinical outcome were evaluated comparatively. Mesothelin levels were higher in cancer patients than in those with benign ovarian tumors or in normal populations. Mesothelin, also significantly increased from early to advanced stages. Elevated mesothelin before therapy and advanced stage, revealed poorer overall survival (OS) for cancer patients. Elevated mesothelin before therapy also revealed poorer OS in cancer patients with optimal debulking surgery and in advanced-stage cancer patients. Mesothelin might be a new tumor marker for the differential diagnosis of epithelial ovarian carcinoma and a prognostic factorfor the outcome of epithelial ovarian carcinoma patients.Anticancer research 26(6C):4721-8. · 1.73 Impact Factor
Top co-authors
Top Journals
Institutions
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2011
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Wan Fang Hospital
Taipei, Taipei, Taiwan
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2010
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Chung Shan Medical University
- Department of Biomedical Sciences
Taichung, Taiwan, Taiwan
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2007–2009
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China Medical University Hospital
Taichung, Taiwan, Taiwan
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2008
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Mackay Memorial Hospital
Taipei, Taipei, Taiwan
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2004
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National Taiwan University Hospital
Taipei, Taipei, Taiwan
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