OBJECTIVE: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population. METHODS: Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR. RESULTS: Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII ; Hemophilia A ; Humans ; Introns ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Prenatal Diagnosis

OBJECTIVE: To set up the methodology for fluorescent PCR analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene, and to identify the usefulness of intron 13 and intron 22 microsatellite polymorphism for the carrier detection and prenatal diagnosis of hemophilia A in the Korean population. METHODS: Intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene were analyzed in 30 unrelated Korean mothers of patients with severe hemophilia A using fluorescent PCR. RESULTS: Analysis of intron 13 and intron 22 microsatellite polymorphisms of the factor VIII gene was feasible by the fluorescent-PCR method. The expected heterozygosity rates of intron 13 and intron 22 polymorphisms of the factor VIII gene were 67% and 34%, respectively. Combined analysis of intron 13 and intron 22 polymorphisms revealed heterozygous patterns in 16 (53%) of 30 mothers studied. Using linkage analysis with intron 13 and intron 22 polymorphisms, we have attempted three cases of carrier detection and one cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that flourescent-PCR analysis of the intron 13 and intron 22 microsatellite polymorphisms within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII ; Hemophilia A ; Humans ; Introns ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Prenatal Diagnosis

PURPOSE: We investigated whether TIGR/MYOC, a candidate gene for the primary open angle glaucoma(POAG) is also involved in the pathogenesis of normal tension glaucoma(NTG) and steroid-induced glau-coma(SIG). METHODS: Genomic DNA was extracted from the peripheral blood samples collected from 72 normal volunteers and 60 POAG, 47 NTG, 61 SIG patients. The genotype distribution of dinucleotide repeat polymorphism, (G-T)n microsatellite located 249 bp upstream of transcription start site was determined by direct sequencing of the Polymerase Chain Reaction(PCR) product. RESULTS: We found 6 alleles in the (G-T)n microsatellite of TIGR/MYOC ranging from 12 to 17, which differ slightly from that of previous reports. There was no obvious difference in the genotype distribution and allele frequency between the POAG group and the control group. However, a significant association of the microsatellite marker with SIG and, to a lesser extent, with NTG was observed. A significant increase in the frequency of (G-T)13/(G-T)13 genotype and a concomitant decrease in the frequency of (G-T)13/(G-T)14 genotype was seen in both the NTG and SIG group compared to that of the control group. In the SIG group, a significant decrease in the frequency of (G-T)14 allele was also observed compared to the control group, although the decrease did not contribute to the increase in the frequency of the allele. CONCLUSIONS: These findings suggest that a polymorphism in the 5 flanking region of the TIGR/MYOC is associated with patients with NTG and SIG.
Alleles ; Dinucleotide Repeats* ; DNA ; Gene Frequency ; Genotype ; Glaucoma* ; Healthy Volunteers ; Humans ; Microsatellite Repeats ; Transcription Initiation Site

PURPOSE: We aimed to evaluate the clinical characteristics of microsatellite instability in early gastric cancer.MATERIALS AND METHODS: The microsatellite instability status of resected early gastric tumors was evaluated using two mononucleotide repeat markers (BAT25 and BAT26) and three dinucleotide repeat markers (D5S346, D2S123, and D17S250). Tumors with instability in two or more markers were defined as microsatellite instability-high (MSI-H) and others were classified as microsatellite stable (MSS).RESULTS: Overall, 1,156 tumors were included in the analysis, with 85 (7.4%) classified as MSI-H compared with MSS tumors. For MSI-H tumors, there was a significant correlation with the female sex, older age, tumor location in the lower gastric body, intestinal histology, lymphovascular invasion (LVI), and submucosal invasion (P<0.05). There was also a trend toward an association with lymph node (LN) metastasis (P=0.056). In mucosal gastric cancer, there was no significant difference in MSI status in tumors with LN metastasis or tumors with LVI. In submucosal gastric cancer, LVI was more frequently observed in MSI-H than in MSS tumors (38.9% vs. 25.0%, P=0.027), but there was no difference in the presence of LN metastases. The prognosis of MSI-H tumors was similar to that of MSS tumors (log-rank test, P=0.797, the hazard ratio for MSI-H was adjusted by age, sex, pT stage, and the number of metastatic LNs, 0.932; 95% confidence interval, 0.423–2.054; P=0.861).CONCLUSIONS: MSI status was not useful in predicting prognosis in early gastric cancer. However, the frequent presence of LVI in early MSI-H gastric cancer may help guide the appropriate treatment for patients, such as endoscopic treatment or limited LN surgical dissection.
Dinucleotide Repeats ; Female ; Humans ; Lymph Nodes ; Microsatellite Instability ; Microsatellite Repeats ; Neoplasm Metastasis ; Prognosis ; Stomach Neoplasms

Though initial report from Japan showed positive association of schizophrenia with dinucleotide repeat polymorphism in the NT-3 gene, subsequent studies showed mixed results. Therefore we conducted a replication study with Korean schizophrenics and matched controls who share similar ethnic background with Japanese population. The frequency of allele of dinucleotide repeat at 147 base pairs in the NT-3 gene was slightly increased, however, failed to reach statistical significance(X2=1.884, df=1, p<0.170) between the two groups. These findings do not support on association of NT-3 gene polymorphism with schizophrenia in Korean sample.
Alleles ; Asian Continental Ancestry Group ; Base Pairing ; Dinucleotide Repeats ; Humans ; Japan ; Schizophrenia

Simple and effective methods are needed for the identification of Chinese medicinal material species and their variety. Lonicera japonica Thunb. is one of Chinese herbal medicines widely demanded. A total of 3 705 EST-SSRs of L. japonica and 2 818 EST-SSRs of L. japonica var. chinensis Thunb. were identified from EST database in our lab. In average, there was one EST-SSR per 4.05 kb in L. japonica ESTs and per 7.49 kb in L. japonica var. chinensis ESTs, separately. The identified SSRs in L. japonica were consisted of 51.98% dinucleotide and 34.61% trinucleotide repeats, while SSRs in L. japonica var. chinensis had 57.45% dinucleotide and 30.09% trinucleotide. The results reviewed that the classes AG/TC and GAG/TCT were predominant in the dinucleotide motifs and the trinucleotide motifs, respectively. Total 87 EST-SSRs were identified of significant difference between L. japonica and L. japonica var. chinensis. PCR products were obtained from 52 L. japonica samples in 13 out of 15 SSR markers tested. The polymorphism in L. japonica, L. japonica var. chinensis and other honeysuckles could be distinguished by three markers (jp.ssr4, jp.ssr64 and jp.ssr65) tested.
Dinucleotide Repeats ; Expressed Sequence Tags ; Flowers ; genetics ; Lonicera ; classification ; genetics ; Microsatellite Repeats ; Plants, Medicinal ; classification ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Trinucleotide Repeats

OBJECTIVES: Recent genetic studies have suggested a preferential transmission of the Dopamine D5 receptor gene (DRD5) 148bp marker allele. The aim of this study is to test the association between DRD5 and ADHD. METHODS: 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk test (HHRR). And also the ADHD children were compared with 212 age and gender matched normal controls. RESULTS: We found the evidence for an association of short alleles of DRD5 dinucleotide repeat polymorphism in both case control and family based studyies. Additionally, we observed some evidence for biased transmission of allele 152 bp and 144 bp. CONCLUSION: Our results lend credence to the notion that the relationship between ADHD and DRD5 is complex. The number of cases and informative transmissions in our study were small, therefore it would be premature to make any conclusions concerning the role of DRD5 in ADHD. Further work is needed to support these findings.
Alleles ; Attention Deficit Disorder with Hyperactivity* ; Bias (Epidemiology) ; Case-Control Studies* ; Child ; Dinucleotide Repeats ; Dopamine* ; Haplotypes ; Humans ; Parents ; Receptors, Dopamine D5*

OBJECTIVES: Recent genetic studies have suggested a preferential transmission of the Dopamine D5 receptor gene (DRD5) 148bp marker allele. The aim of this study is to test the association between DRD5 and ADHD. METHODS: 106 Korean children with ADHD and their parents were analyzed using the transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk test (HHRR). And also the ADHD children were compared with 212 age and gender matched normal controls. RESULTS: We found the evidence for an association of short alleles of DRD5 dinucleotide repeat polymorphism in both case control and family based studyies. Additionally, we observed some evidence for biased transmission of allele 152 bp and 144 bp. CONCLUSION: Our results lend credence to the notion that the relationship between ADHD and DRD5 is complex. The number of cases and informative transmissions in our study were small, therefore it would be premature to make any conclusions concerning the role of DRD5 in ADHD. Further work is needed to support these findings.
Alleles ; Attention Deficit Disorder with Hyperactivity* ; Bias (Epidemiology) ; Case-Control Studies* ; Child ; Dinucleotide Repeats ; Dopamine* ; Haplotypes ; Humans ; Parents ; Receptors, Dopamine D5*

OBJECTIVE: To explore the association of the estrogen receptor dinucleotide repeat polymorphism with the risk of endometriosis. DESIGN: Case-control study. METHODS: One hundred fifty-one women with surgically or histologically diagnosed endometriosis of stages I-IV (ASRM, 1997) were recruited, and 137 patients with no evidence of endometriosis by laparoscopy or laparotomy served as control. Dinucleotide repeat polymorphism of the estrogen receptor gene was assessed by fluorescent PCR with gene scan analysis. Allele frequencies of dinucleotide repeat polymorphism of the estrogen receptor gene were evaluated. RESULTS: Fifteen alleles of the estrogen receptor dinucleotide repeat polymorphism were found in subjects: from 12 repeats to 27 repeats except 26 repeats. There was no statistically significant difference in the allele distribution of dinucleotide repeat polymorphism between patients with endometriosis and controls. However, patients with stage I or II endometriosis (n=51) showed a higher incidence of alleles with fewer (TA)n repeats (12-15 repeats) compared with controls (67.6% vs 52.9%, p=0.010, odds ratio=1.860). CONCLUSION: These results suggest that dinucleotide repeat polymorphism of the estrogen receptor gene is associated with the risk of minimal or mild endometriosis in the Korean population.
Alleles ; Case-Control Studies ; Dinucleotide Repeats ; Endometriosis* ; Estrogens* ; Female ; Gene Frequency ; Humans ; Incidence ; Laparoscopy ; Laparotomy ; Polymerase Chain Reaction

We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor VIII gene for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22 dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII* ; Female ; Fetus ; Hemophilia A* ; Humans ; Introns ; Male ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Pregnant Women ; Prenatal Diagnosis* ; Tandem Repeat Sequences*