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Biomedical subjects

J G Chang

Publications and source records attributed to J G Chang.

At least 55 records · Page 3Linked to original sources
PubMed2000

Molecular basis of Lewis blood type in Taiwanese.

The Lewis (Le) histo-blood group system comprises two major antigens, Le(a) and Le(b) which are determined by alpha (1,2)-fucosyltransferase (FUT2) and alpha (1,3/1,4)-fucosyltransferase (FUT3). In this study, we analyzed the mutations of FUT2 and FUT3 genes in 101 Taiwanese by molecular biology method and compared them with their serologic phenotypes to explore their relationship. There is at least one wild allele of FUT2 and FUT3 genes in phenotype of Le (a-b+). The phenotypes of Le (a+b-) and Le (a+b+) are caused by mutations of both alleles of FUT2 gene and at least one wild allele of FUT3 gene. The genotypes of Le (a+b-) and Le (a+b+) are the same. Twenty cases are phenotype of Le (a-b-), which are caused by mutations of both alleles of FUT 2 gene and/or FUT 3 gene. Twelve cases were caused by both alleles mutations of FUT 3 gene only, while three cases were caused by mutations of both alleles of FUT2 gene and the rest of the cases were caused by mutations of both alleles of FUT2 and FUT3 genes. Our findings confirm that the Le histo-blood group is determined by the interaction of FUT 2 and FUT 3 genes. Our report is the first study of FUT 2 gene and FUT 3 gene in a Taiwanese population. We suggest that the genetic analysis of Le blood group should include FUT 2 and FUT 3 genes together.

Fucosyltransferases↗
PubMed1999

No association of alpha-2 macroglobulin gene five-nucleotide deletion with AD in Taiwan Chinese.

The alpha-2 macroglobulin five-nucleotide deletion (A2M-2) allele frequency was not significantly higher in the AD group than the control group (0.062 versus 0.101, p > 0.1). The odds ratio for AD in individuals with the A2M-2 allele was 0.582 (95% CI, 0.25 to 1.40). These results do not support the association between A2M-2 and AD in the Chinese population, although the allele frequency of A2M-2 is lower than that found in the Caucasian population. Therefore, A2M-2 might not be a significant risk factor of AD among Taiwan Chinese.

Aged↗
PubMed1999

Prenatal prediction of spinal muscular atrophy in Chinese.

We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.

Deoxyribonucleases, Type II Site-Specific↗
PubMed1999

Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients. By use of single strand conformation polymorphism and direct sequencing, we had detected 21 mutant alleles out of 24 OCA1 chromosomes screened (87.5%). Detected mutant alleles include one splicing site, three insertion/deletion and five missense mutations, of which the splicing site nucleotide alteration (IVS 1-3C>G) and two each of the insertion/deletion (232-233 ins GGG and 861-862 del TT) and missense mutations (Cys 289 Gly and Trp 400 Leu) are novel. The ins/del mutations accounts for about 37.5% in Chinese OCA1 alleles. The 232-233 ins GGG, one of the novel mutations, was found to be most frequent (25%) among the OCA1 alleles in Chinese. Through this study, we found that while some of the OCA mutant alleles were identified in other populations, ethnic difference still exists. Hum Mutat 14:542, 1999.

Albinism, Oculocutaneous↗
PubMed1999

Molecular characterization of secretor type alpha(1, 2)-fucosyltransferase gene deficiency in the Philippine population.

We analyzed the seven mutations which are responsible for the deficiency of the secretor type alpha(1,2)-fucosyltransferase gene product, Se enzyme, in the Philippine population. One hundred and one unrelated Filipinos in Taiwan were studied. A new mutation, a 3-base pair deletion from nt 688 through 690, was found in two (0. 1%) of 202 chromosomes. The frequencies of six other mutated alleles were as follows: 71/202 (35.2%) were cDNA 385 A-->T missensed mutation (se2), 28/202 (13.9%) were C571T nonsense mutation (se3), 16/202 (7.9%) were G849A nonsense mutation (se4), 4/202 (1.9%) were G428A nonsense mutation (se1), and 81/202 (40.1%) were wild-type allele (Se). No C628T nonsense mutations (se5) or fusion genes of pseudogene and FUT2 gene (se 6) were found in this population. For the molecular basis of phenotype Le(a+ b-): eight cases had se2/se2, six cases had se2/se3, two cases had se3/se4, one case was homozygous of se4, one case was se3/se1, and two cases were se2/se7. For the Le(a+ b+) phenotype: four cases had se2/se2, two cases had se2/se3, one case was se3/se3, and one case was se2/se4. For the Le(a- b+) phenotype: 16 cases were Se/Se, 21 cases were Se/se2, six cases were Se/se3, five cases were Se/se4, and two cases had Se/se1. Our results suggest that the genotypes of the alpha(1, 2)-fucosyltransferase gene in phenotypes Le(a+ b+) and Le(a+ b-) are the same. Other factors that play important roles may cause the differences between these two phenotypes. Several hotspot mutations in the alpha(1,2)-fucosyltransferase gene are responsible for the nonsecretor phenotype.

Fucosyltransferases↗
PubMed1999

Analysis of aberrant transcription of TSG101 in hepatocellular carcinomas.

A variety of studies suggest that tumour suppressor loci on chromosome 11p are important in various forms of human neoplasia. Recently, a gene located at the chromosome 11p 15.1-15.2 region called TSG101 was discovered and proposed as a candidate tumour suppressor gene in breast cancers. We evaluated the TSG101 gene in a panel of liver cancer cell lines and paired tumours and non-malignant tissues. In this study, four of the seven (57%) cell lines, eight of the 18 (44%) tumours and four of the 18 (22%) non-malignant liver tissues exhibited aberrant TSG101 transcripts by nested reverse transcription-polymerase chain reaction (RT-PCR) analysis. However, a normal-sized transcript without sequence abnormalities verified by single-stranded conformation polymorphism (SSCP) analysis was expressed at robust levels in all the cell lines and most of the tissue samples tested. In addition, Southern blot analysis could identify no genomic abnormalities of the gene. Our results suggest either that the TSG101 gene may not be involved in hepatocarcinogenesis or that it plays a role in the development and/or progress of hepatocellular carcinomas through an unusual mechanism.

Adult↗
PubMed1999

Mutation analysis of the PTEN/MMAC1 gene in cancers of the digestive tract.

The 10q23.3 gene PTEN (phosphatase and Tensin homologue deleted on chromosome 10) or MMAC1 (mutated in multiple advanced cancers 1) was recently reported to undergo frequent mutation, including mutations and deletions in multiple advanced cancers. This study showed that the aberrant transcripts of this gene are frequently found in cancers of the digestive tract, paired non-cancerous tissues and normal peripheral mononuclear cells. Sequence analysis of the aberrant transcripts revealed three types of deletions: (i) a deletion junction with a splicing-like donor or acceptor sequence; (ii) several-base homology near or between the donor acceptor site at the deletion junction; and (iii) deletion with insertion. From these results, it is suggested that aberrant transcripts of PTEN/MMAC1 found by nested reverse transcription-polymerase chain reaction are a common (or natural) phenomenon unrelated to oncogenesis. The mechanism producing these aberrant transcripts needs further investigation. Using single-strand conformation polymorphism and direct sequencing to analyse for small base changes of the genomic DNA of the PTEN/MMAC1 gene revealed no point mutations or small base changes.

Colonic Neoplasms↗
PubMed1999

Mutation analysis of the putative tumor suppression gene PTEN/MMAC1 in sporadic breast cancer.

PTEN/MMAC1, a potential human tumor suppressor gene, has been found to have inactivating mutations in several types of cancer, including breast cancer. The incidence of breast cancer in Chinese is quite low in comparison with Caucasians, and genetic factors may play some roles. To further determine the role of PTEN/MMAC1 in breast cancer in Chinese, we used loss of heterozygosity (LOH), single strand conformation polymorphism (SSCP) with direct sequencing of variant bands, and Southern blot analysis methods to analyze mutations in PTEN/MMAC1 in 52 cases of breast cancer. None had LOH at chromosome 10q23.3. One mutation was identified, a somatic 3-base deletion, in one case. Our results suggest PTEN/MMAC1 does not play a major role in the development of sporadic breast cancer.

Adult↗
PubMed1999

Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.

Carcinoma of the uterine cervix is a common malignancy among women that has been found to show loss of heterozygosity in the chromosome 11p. Recent studies have localized the TSG101 gene in this region, and also demonstrated a high frequency of abnormalities of this gene in human breast cancer. To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products. We found that abnormal transcripts of the TSG101 gene were common both in cancerous or non-cancerous tissues of the uterus and cervix and in normal peripheral mononuclear cells. There was no genomic deletion or rearrangement in spite of the presence of abnormal transcripts, and no definite relationship between the abnormal transcripts and HPV infection was found. Although the frequency of abnormal transcripts was higher in cancerous than in non-cancerous tissue, normal peripheral mononuclear cells also had abnormal transcripts. Given these findings, the role of the TSG101 gene as a tumour-suppressor gene should be re-evaluated. Because some aberrant transcripts could be found at the first PCR reaction, we suggest that the aberrant transcripts might be the result of imperfect minor splicesome products.

Adult↗
PubMed1999

Molecular analysis of secretor type alpha(1,2)-fucosyltransferase gene mutations in the Chinese and Thai populations.

BACKGROUND: The human Lewis histo-blood group system belongs to a family of structurally related oligosaccharides. The mutations of fucosyltransferase genes alpha(1,2)-fucosyltransferase (FUT2 or Se) and alpha(1,3/1,4)-fucosyltransferase (FUT3 or Le), are responsible for the polymorphism of Lewis blood group phenotypes. However, a population study of the FUT2 mutation in Chinese and Thais has not yet been done, and there is some controversy about the phenotypes of Le(a+b+) and Le(a+b-). STUDY DESIGN AND METHODS: One hundred twentyfour Chinese and 70 Thais were phenotyped for Lea and Le(b). DNA samples were studied by polymerase chain reaction and then by a restriction enzyme digestion method to distinguish wild-type and six known mutations. Direct sequencing was done for controls and some uncertain cases. RESULTS: A new mutation, C302T mutation, was found in 2 of 136 chromosomes in the Thai population; none were discovered in Chinese. The frequencies of the normal and six mutant alleles among Chinese and Thais, respectively, were as follows: 134 (54.0%) of 248 and 58 (41.4%) of 140 were wild-type (Se); 0 of 248 and 2 of 140 (both 1.4%) had the G428A mutation; 120 (48.4%) of 248 and 75 (53.6%) of 140 had the A385T mutation; 2 (0.81%) of 248 and 0 of 140 had the C571T mutation; and 1 (0.4%) of 248 and 3 (2.2%) of 140 had the G849A mutation. Only 1 Chinese (0.4%) of 248 had the C628T mutation, and none had fusion gene mutation. CONCLUSION: The FUT2 genes encoding for the phenotypes Le(a+b+) and Le(a+b-) are the same. The function and character of the mutant enzyme may play an important role in the phenotype. The methods used in this study are clinically applicable in population studies of the FUT2 gene polymorphism to explore relationships among different ethnic groups and correlations between phenotype and genotype.

China↗
PubMed1999

No mutation of G209A in the alpha-synuclein gene in sporadic Parkinson's disease among Taiwan Chinese.

The role of genetics in Parkinson's disease (PD), previously controversial, is now supported by several studies. A major breakthrough has been the discovery of a single gene defect in familial Parkinson's disease. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been identified in cases of familial PD. We looked for this mutation in 65 cases of sporadic PD in Taiwan Chinese patients but found none of these patients with this mutation. We conclude that mutation of G209A in the alpha-synuclein gene plays no role in sporadic PD among Taiwan Chinese.

Asian People↗
PubMed1999

Are aberrant transcripts of FHIT, TSG101, and PTEN/MMAC1 oncogenesis related?

Tumor suppressor gene mutations in TSG101, FHIT, and PTEN/MMAC1 were found in many types of cancer and the defects in these genes are responsible for the tumor development. Since aberrant transcripts of these genes were also identified in normal tissues, the significance of these mutations in carcinogenesis has become a controversy. To determine large deletions or other alterations in these genes, we analyzed the integrity of their transcripts in both cancerous tissues and the matched normal tissues. More than 400 transcripts derived from at least eight different types of tissue were analyzed using nested RT-PCR and direct sequencing. High frequency of abnormal transcripts of all three genes occurred in both cancerous and the normal tissues. We believe that these aberrant transcripts do not relate to cancer development. These aberrant transcripts may be imperfect products of splicesome that occurs rarely but was amplified by nested RT-PCR. They may be also generated from alternative splicing due to the exonic splicing elements of the gene.

Acid Anhydride Hydrolases↗
PubMed1999

P53 codon 72Arg polymorphism is not a risk factor for carcinogenesis in the chinese.

The potential association of distinct polymorphism of the tumor suppressor gene p53, with an increased susceptibility to malignant transformation has been reported for various cancers. A polymorphism at codon 72 of p53 results in translation to either arginine (p53Arg) or proline (p53Pro), and recent study showed that Caucasian women with arginine form of p53 are more susceptible to HPV-associated carcinoma of the cervix. To examine whether arginine 72 could be a significant risk factor for tumor development, we used a PCR-based assay to analyze p53 genotypes of patients for several types of carcinoma. No significant difference in the frequency of p53Arg was found between normal and cancer patients, the results showed that the individuals homozygous for arginine variant were not at increased risk for cancer.

Arginine↗
PubMed1999

Identification of a new single nucleotide substitution on the hypoxanthine-guanine phosphoribosyltransferase gene (HPRT(Tsou) from a Taiwanese aboriginal family with severe gout.

OBJECTIVE: A new single nucleotide change of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene on coding region has been identified from a Taiwanese aboriginal family with gout. The mutation was used to screen 27 members of the family, 22 Tsou, 70 Atayal, and 76 Bunun children, the elders for whom had been found to have a high prevalence of gout. METHODS: An entire peptide of HPRT coding region was directly sequenced from the cDNA of a patient with severe gout, and by using polymerase chain reaction and restriction fragment length polymorphism to screen the other participants. RESULTS: A new nucleotide change located at nucleotide 152 (G to A transition) was found that predicted an arginine to glutamine substitution at amino acid 51. This variant was named HPRT(Tsou), and was found in 3 women and 3 men among the patient's 7 siblings, 2 boys and 2 girls among the 8 children of the siblings, and one female Tsou (4.5%, 1/22) and one female Atayal (1.4%, 1/70). The serum uric acid concentration among male HPRT(Tsou) carriers in the patient's family was significantly higher than among those who had at least one HPRT gene that did not have HPRT(Tsou). CONCLUSION: We found that the HPRT(Tsou) gene variant is partially responsible for the hyperuricemia in an aboriginal population in Taiwan known for a high incidence of gout.

Adolescent↗