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Mitsuru Emi - One of the best experts on this subject based on the ideXlab platform.
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isolation and radiation hybrid mapping of Dinucleotide Repeat polymorphism at the human estrogen receptor β locus
Journal of Human Genetics, 1998Co-Authors: Kazuhiro Tsukamoto, Satoshi Inoue, Takayuki Hosoi, Hajime Orimo, Mitsuru EmiAbstract:A gene for a second type of human estrogen receptor, the estrogen receptor β (ESRβ), was recently identified. We isolated a polymorphic Dinucleotide CA Repeat marker from a genomic clone containing the human estrogen receptor β gene. High heterozygosity (0.93) makes this polymorphism a useful marker in the genetic study of disorders affecting female endocrine systems; calcium metabolism; and breast, uterine, and ovarian cancers.
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isolation and radiation hybrid mapping of Dinucleotide Repeat polymorphism at the human estrogen receptor beta locus
Journal of Human Genetics, 1998Co-Authors: Kazuhiro Tsukamoto, Satoshi Inoue, Takayuki Hosoi, Hajime Orimo, Mitsuru EmiAbstract:A gene for a second type of human estrogen receptor, the estrogen receptor β (ESRβ), was recently identified. We isolated a polymorphic Dinucleotide CA Repeat marker from a genomic clone containing the human estrogen receptor β gene. High heterozygosity (0.93) makes this polymorphism a useful marker in the genetic study of disorders affecting female endocrine systems; calcium metabolism; and breast, uterine, and ovarian cancers.
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association of estrogen receptor Dinucleotide Repeat polymorphism with osteoporosis
Biochemical and Biophysical Research Communications, 1995Co-Authors: Michio Sano, Satoshi Inoue, Takayuki Hosoi, Mitsuru Emi, Yasuyoshi Ouchi, Masataka Shiraki, Hajime OrimoAbstract:Abstract We investigated the association between Dinucleotide (thymine-adenine) Repeat polymorphism lying upstream of human estrogen receptor (ER) gene and bone mineral density (BMD) as well as biochemical markers for bone metabolism in 144 healthy postmenopausal Japanese women. The genotype was classified into "A" through "R" according to the number of the Repeats, from 10 to 27. BMD was expressed in Z score (a deviation from the weight-adjusted average BMD of each age using the standard deviation as a unit). The people having genotype C (12 Repeats of thymine-adenine) allele (n=15) had significantly lower Z score of spine BMD (mean ± SD; −1.11 ± 1.3 vs. −0.06 ± 1.2; p
Hajime Orimo - One of the best experts on this subject based on the ideXlab platform.
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isolation and radiation hybrid mapping of Dinucleotide Repeat polymorphism at the human estrogen receptor β locus
Journal of Human Genetics, 1998Co-Authors: Kazuhiro Tsukamoto, Satoshi Inoue, Takayuki Hosoi, Hajime Orimo, Mitsuru EmiAbstract:A gene for a second type of human estrogen receptor, the estrogen receptor β (ESRβ), was recently identified. We isolated a polymorphic Dinucleotide CA Repeat marker from a genomic clone containing the human estrogen receptor β gene. High heterozygosity (0.93) makes this polymorphism a useful marker in the genetic study of disorders affecting female endocrine systems; calcium metabolism; and breast, uterine, and ovarian cancers.
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isolation and radiation hybrid mapping of Dinucleotide Repeat polymorphism at the human estrogen receptor beta locus
Journal of Human Genetics, 1998Co-Authors: Kazuhiro Tsukamoto, Satoshi Inoue, Takayuki Hosoi, Hajime Orimo, Mitsuru EmiAbstract:A gene for a second type of human estrogen receptor, the estrogen receptor β (ESRβ), was recently identified. We isolated a polymorphic Dinucleotide CA Repeat marker from a genomic clone containing the human estrogen receptor β gene. High heterozygosity (0.93) makes this polymorphism a useful marker in the genetic study of disorders affecting female endocrine systems; calcium metabolism; and breast, uterine, and ovarian cancers.
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association of estrogen receptor Dinucleotide Repeat polymorphism with osteoporosis
Biochemical and Biophysical Research Communications, 1995Co-Authors: Michio Sano, Satoshi Inoue, Takayuki Hosoi, Mitsuru Emi, Yasuyoshi Ouchi, Masataka Shiraki, Hajime OrimoAbstract:Abstract We investigated the association between Dinucleotide (thymine-adenine) Repeat polymorphism lying upstream of human estrogen receptor (ER) gene and bone mineral density (BMD) as well as biochemical markers for bone metabolism in 144 healthy postmenopausal Japanese women. The genotype was classified into "A" through "R" according to the number of the Repeats, from 10 to 27. BMD was expressed in Z score (a deviation from the weight-adjusted average BMD of each age using the standard deviation as a unit). The people having genotype C (12 Repeats of thymine-adenine) allele (n=15) had significantly lower Z score of spine BMD (mean ± SD; −1.11 ± 1.3 vs. −0.06 ± 1.2; p
Jonathan L Haines - One of the best experts on this subject based on the ideXlab platform.
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linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12 1
American Journal of Human Genetics, 1994Co-Authors: Terry J Lerner, Rosemary Boustany, Kathleen Maccormack, Jennifer Gleitsman, Karen Schlumpf, Xandra O Breakefield, James F Gusella, Jonathan L HainesAbstract:The neuronal ceroid lipofuscinoses (NCL; Batten disease) are a collection of autosomal recessive disorders characterized by the accumulation of autofluorescent lipopigments in the neurons and other cell types. Clinically, these disorders are characterized by progressive encephalopathy, loss of vision, and seizures. CLN3, the gene responsible for juvenile NCL, has been mapped to a 15-cM region flanked by the marker loci D16S148 and D16S150 on human chromosome 16. CLN2, the gene causing the late-infantile form of NCL (LNCL), is not yet mapped. We have used highly informative Dinucleotide Repeat markers mapping between D16S148 and D16S150 to refine the localization of CLN3 and to test for linkage to CLN2. We find significant linkage disequilibrium between CLN3 and the Dinucleotide Repeat marker loci D16S288 (chi 2(7) = 46.5, P < .005), D16S298 (chi 2(6) = 36.6, P < .005), and D16S299 (chi 2(7) = 73.8, P < .005), and also a novel RFLP marker at the D16S272 locus (chi 2(1) = 5.7, P = .02). These markers all map to 16p12.1. The D16S298/D16S299 haplotype "5/4" is highly overrepresented, accounting for 54% of CLN3 chromosomes as compared with 8% of control chromosomes (chi 2 = 117, df = 1, P < .001). Examination of the haplotypes suggests that the CLN3 locus can be narrowed to the region immediately surrounding these markers in 16p12.1. Analysis of D16S299 in our LNCL pedigrees supports our previous finding that CLN3 and CLN2 are different genetic loci. This study also indicates that Dinucleotide Repeat markers play a valuable role in disequilibrium studies.
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linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12 1
American Journal of Human Genetics, 1994Co-Authors: Terry J Lerner, Rosemary Boustany, Kathleen Maccormack, Jennifer Gleitsman, Karen Schlumpf, Xandra O Breakefield, James F Gusella, Jonathan L HainesAbstract:The neuronal ceroid lipofuscinoses (NCL; Batten disease) are a collection of autosomal recessive disorders characterized by the accumulation of autofluorescent lipopigments in the neurons and other cell types. Clinically, these disorders are characterized by progressive encephalopathy, loss of vision, and seizures. CLN3, the gene responsible for juvenile NCL, has been mapped to a 15-cM region flanked by the marker loci D16S148 and D16S150 on human chromosome 16. CLN2, the gene causing the late-infantile form of NCL (LNCL), is not yet mapped. We have used highly informative Dinucleotide Repeat markers mapping between D16S148 and D16S150 to refine the localization of CLN3 and to test for linkage to CLN2. We find significant linkage disequilibrium between CLN3 and the Dinucleotide Repeat marker loci D16S288 (chi 2(7) = 46.5, P < .005), D16S298 (chi 2(6) = 36.6, P < .005), and D16S299 (chi 2(7) = 73.8, P < .005), and also a novel RFLP marker at the D16S272 locus (chi 2(1) = 5.7, P = .02). These markers all map to 16p12.1. The D16S298/D16S299 haplotype "5/4" is highly overrepresented, accounting for 54% of CLN3 chromosomes as compared with 8% of control chromosomes (chi 2 = 117, df = 1, P < .001). Examination of the haplotypes suggests that the CLN3 locus can be narrowed to the region immediately surrounding these markers in 16p12.1. Analysis of D16S299 in our LNCL pedigrees supports our previous finding that CLN3 and CLN2 are different genetic loci. This study also indicates that Dinucleotide Repeat markers play a valuable role in disequilibrium studies.
Yusuke Nakamura - One of the best experts on this subject based on the ideXlab platform.
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Dinucleotide Repeat polymorphism in the first intron of the csr gene
Journal of Human Genetics, 1998Co-Authors: Hyejung Han, Yusuke NakamuraAbstract:The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic Dinucleotide Repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic marker to study diseases associated with oxidative stress.
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heterozygosities and allelic frequencies of 358 Dinucleotide Repeat marker loci in the japanese population
Journal of Human Genetics, 1998Co-Authors: Yuka Yamanetanaka, Yusuke Nakamura, Keiko Kogawa, Toshihiro Tanaka, Minoru IsomuraAbstract:We examined 64 normal Japanese chromosomes to determine the heterozygosities and allelic frequencies of 358 Dinucleotide-Repeat marker loci spanning the whole human genome. Comparisons of the data for each marker in the Japanese population sample with data for the same markers among Caucasian samples in the Genome Database (GDB) revealed a slightly lower average of heterozygosity in Japanese (71% vs 79%). Although the majority of the markers were as informative as in Caucasians, some in our sample were uninformative due to low heterozygosity; 38 loci revealed heterozygosities lower than 50% and 11 of these were less than 30%. Furthermore, allelic distributions at many of the marker loci were quite different in the two racial groups. Since such differences will influence statistical analyses between markers and disease loci, our data will be essential for linkage analyses, sib-ship pair analyses, and association studies involving the Japanese population. Therefore we have archived this database on a home page on the Internet (http://www.ims.u-tokyo.ac.jp/nakamura/Yamane.html).
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allelic frequencies of twelve Dinucleotide Repeat marker loci on chromosome 13 in the normal japanese population
Journal of Human Genetics, 1997Co-Authors: Yuka Yamane, Yusuke Nakamura, Minoru IsomuraAbstract:To establish a genotypic database for Dinucleotide Repeat marker loci in the Japanese population, we determined allelic frequencies of 12 such markers on chromosome 13 and compared them with data from Caucasians in the GDB archive. The average heterozygosity (79%) for the 12 loci was the same for the two populations. However, allelic distributions at two of the marker loci were quite different. These data will be useful for disease studies in the Japanese population that involve linkage or sibship-pair analyses, or association studies.
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detection of loss of heterozygosity at the human tp53 locus using a Dinucleotide Repeat polymorphism
Genes Chromosomes and Cancer, 1992Co-Authors: Michael H. Jones, Yusuke NakamuraAbstract:Loss of heterozygosity at the TP53 locus occurs frequently in many types of cancer and requires polymorphic markers for detection. Several polymorphisms at the TP53 locus have been described previously, and polymerase chain reaction (PCR)-based assays have been developed to detect these polymorphisms. However, these polymorphisms have relatively low levels of heterozygosity and are often uninformative. We report here the detection of loss of heterozygosity at the TP53 locus in various human cancers by using a highly informative Dinucleotide Repeat polymorphism.
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Isolation and characterization of 19 Dinucleotide Repeat polymorphisms on chromosome 3p
Human molecular genetics, 1992Co-Authors: Michael H. Jones, Kazuhiro Yamakawa, Yusuke NakamuraAbstract:We have screened cosmids on chromosome 3p for (dC-dA)n.(dG-dT)n Dinucleotide-Repeat sequences. Eighty-nine of 155 cosmids (58%) contained (dC-dA)n.(dG-dT(n Repeats as determined by colony hybridization with a (dG-dT)10 oligonucleotide probe; 29 of these were subcloned and the sequences flanking the Dinucleotide Repeats were determined. Nineteen of the 24 loci examined for polymorphisms by PCR were found to be polymorphic with heterozygosities ranging from 3% to 86%. These Dinucleotide Repeat polymorphisms will be useful markers for high-resolution mapping of genes that have been localized to 3p, including tumour suppressor genes associated with several types of cancer and genes responsible for various hereditary disorders, such as von Hippel-Lindau disease.
Wei Zheng - One of the best experts on this subject based on the ideXlab platform.
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association of mitochondrial dna displacement loop ca n Dinucleotide Repeat polymorphism with breast cancer risk and survival among chinese women
Cancer Epidemiology Biomarkers & Prevention, 2008Co-Authors: Yutang Gao, Wanqing Wen, Xiaoou Shu, Jeffrey R Smith, Wei Zheng, Joan P Breyer, Qiuyin CaiAbstract:Mitochondrial genome alternations may be involved in carcinogenesis. The noncoding region of the mitochondrial DNA (mtDNA) displacement loop (D-loop) has emerged as a mutational hotspot. Using data from a population-based case-control study conducted among Chinese women in Shanghai, we evaluated associations of breast cancer risk and survival with the mtDNA D-loop (CA)(n) Dinucleotide Repeat polymorphism. Included in the study were 1,058 cases and 1,129 age frequency-matched community controls that participated in the Shanghai Breast Cancer Study between 1996 and 1998. Breast cancer patients were followed to determine intervals of overall survival and disease-free survival. Overall, there was no association between the mtDNA D-loop (CA)(n) Repeat polymorphism and breast cancer risk. Patients with multiple alleles of the mtDNA D-loop (CA)(n) polymorphism (heteroplasmy) had significantly poorer disease-free survival than those with one allele of the mtDNA D-loop (CA)(n) polymorphism (hazard ratio 1.62; 95% confidence interval, 1.16-2.26). These results suggest that the mtDNA D-loop (CA)(n) Repeat polymorphism may be associated with breast cancer survival. Additional studies with a larger sample size are warranted.
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association of breast cancer risk with a gt Dinucleotide Repeat polymorphism upstream of the estrogen receptor alpha gene
Cancer Research, 2003Co-Authors: Qiuyin Cai, Yutang Gao, Wanqing Wen, Xiaoou Shu, Fan Jin, Jeffrey R Smith, Wei ZhengAbstract:Recent studies suggest that genetic polymorphisms of the estrogen receptor-alpha (ER-alpha) gene may be associated with breast cancer risk. To evaluate the role of this gene in the risk of breast cancer, we genotyped a newly identified GT Dinucleotide Repeat [(GT)(n)] polymorphism located in the promoter region (6.6 kb upstream of the transcription start site) in 947 breast cancer cases and 993 age frequency-matched community controls from a population-based case-control study conducted among Chinese in urban Shanghai. Sixteen alleles were identified, the most common one having 16 GT Repeats [(GT)(16)]. Compared with subjects homozygous for this allele, subjects carrying the (GT)(17) or (GT)(18) allele had a decreased risk of breast cancer. The odds ratios (ORs) were 0.81 [95% confidence interval (CI), 0.62-1.06] and 0.58 (95% CI, 0.36-0.94), respectively, for one and two copies of the (GT)(17) or (GT)(18) allele. The inverse association with carrying either of these alleles was stronger among women with >30 years of menstrual cycles (OR 0.66; 95% CI 0.51-0.85) than those with a shorter duration of menstrual cycles (OR 0.97; 95% CI 0.73-1.27), and the test for an interaction was statistically significant (P = 0.04). Among breast cancer patients, the presence of either the (GT)(17) or (GT)(18) allele was associated with a reduced expression of progesterone receptor. Results of this study indicate that the GT Dinucleotide Repeat polymorphism in ER-alpha gene promoter region may be a new biomarker for genetic susceptibility to breast cancer.