No abstract available.
*Gene Amplification ; *Gene Deletion ; *Polymorphism, Single Nucleotide ; Stomach Neoplasms/*genetics

BACKGROUND: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. OBJECTIVE: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. METHODS: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. CONCLUSION: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.
Gene Frequency ; Genotype ; Humans ; Melanocytes ; Pigmentation ; Polymorphism, Single Nucleotide ; Vitiligo*

BACKGROUND: The need for genotyping single nucleotide polymorphisms (SNPs) in genes encoding drug-metabolizing enzymes is increasing. Therefore, the recent focus has been on developing fully automated methods for the rapid and accurate measurement of SNPs. METHODS: We used the quenching probe (QP) method and i-densy IS-5310 to genotype 200 DNA specimens from 200 healthy Koreans and 100 whole blood from another 100 for the SNPs CYP2C19*2 and CYP2C19*3. We also performed genotyping of UGT1A1*6 and UGT1A1*28 with the above mentioned 200 DNA samples and 81 whole blood samples. The results of the assay were then compared to conventional direct sequencing. RESULTS: The allele frequencies of CYP2C19 were 25.7% for *2 and 10.3% for *3, and those of UGT1A1 were 17.3% for *6 and 11.2% for *28. These results are similar to those reported in previous studies on Korean populations. The CYP2C19 and UGT1A1 genotypes determined by the QP method perfectly matched (100.0%, K=1.000, P<0.001 for CYP2C19, and 99.6%, K=0.992, P<0.001 for UGT1A1) those determined by direct sequencing, barring a single exception for the UGT1A1 genotype in 1 DNA specimen. CONCLUSIONS: Our results suggest that the QP method, owing to its speed and ease of use, will enable rapid and sensitive diagnosis in clinical laboratories.
Diagnosis ; DNA ; Gene Frequency ; Genotype ; Polymorphism, Single Nucleotide

PURPOSE: The aim of the present study was to determine whether an association exists between UGT1A4 gene polymorphisms (P24T and L48V) and the occurrence of lamotrigine (LTG)-induced rash. METHODS: Ten patients with LTG-induced rash were examined for the P24T and L48V genetic polymorphisms. The results were compared with 42 epilepsy patients without LTG-induced rash and 143 non-exposure epilepsy patients. RESULTS: P24T polymorphism was not found; all studied subjects were homozygous for the 24P allele. Genetic heterogeneity of the L48V polymorphism existed, but the genetic proportions and allele frequencies of L48V polymorphism were not significantly different in the three groups of patients (p>0.05, by Fisher's Exact Test). CONCLUSION: The results of our study suggest that it is unlikely that the L48V polymorphism in the UGT1A4 gene is an important factor underlying LTG-induced rash development, especially in the absence of P24T polymorphism.
Alleles ; Epilepsy ; Exanthema* ; Gene Frequency ; Genetic Heterogeneity ; Humans ; Polymorphism, Genetic

OBJECTIVE To study the genetic polymorphisms of Penta E locus in Fujian Han population. METHODS Polymorphisms of the Penta E locus in 851 unrelated individuals were analyzed using polymerase chain reaction-short tandem repeat (PCR-STR). The mutation rate of rare alleles was analyzed in 494 paternity identification cases (in a total of 674 meiosis). RESULTS Twenty-six alleles were identified for the Penta E locus, with their frequencies ranging from 0.0006 to 0.1528. There were 7 rare alleles, among which Penta E-28.4 ([AAAGA]29) was identified for the first time. Genetic parameters of the Penta E locus in Fujian Han population were obtained, including PIC= 0.91, PE= 0.817, PD= 0.986, and mutation rate= 0.0015. CONCLUSION The Penta E locus is highly polymorphic and has a low mutation rate in Fujian Han population. It also has a good prospect in genetics applications. DNA sequencing is a good method for identifying rare alleles.
Alleles ; Gene Frequency ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic

Although a large number of single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project, few of these have been validated at large in Bos indicus breeds. We have genotyped 192 animals, representing 5 cattle populations of Ethiopia, with the Illumina Bovine 8K SNP BeadChip. These include 1 Sanga (Danakil), 3 zebu (Borana, Arsi and Ambo), and 1 zebu x Sanga intermediate (Horro) breeds. The Hanwoo (Bos taurus) was included for comparison purposes. Analysis of 7,045 SNP markers revealed that the mean minor allele frequency (MAF) was 0.23, 0.22, 0.21, 0.21, 0.23, and 0.29 for Ambo, Arsi, Borana, Danakil, Horro, and Hanwoo, respectively. Significant differences of MAF were observed between the indigenous Ethiopian cattle populations and Hanwoo breed (p < 0.001). Across the Ethiopian cattle populations, a common variant MAF (> or =0.10 and < or =0.5) accounted for an overall estimated 73.79% of the 7,045 SNPs. The Hanwoo displayed a higher proportion of common variant SNPs (90%). Investigation within Ethiopian cattle populations showed that on average, 16.64% of the markers were monomorphic, but in the Hanwoo breed, only 6% of the markers were monomorphic. Across the sampled Ethiopian cattle populations, the mean observed and expected heterozygosities were 0.314 and 0.313, respectively. The level of SNP variation identified in this particular study highlights that these markers can be potentially used for genetic studies in African cattle breeds.
Animals ; Cattle ; Ethiopia ; Gene Frequency ; Polymorphism, Single Nucleotide

Obesity is a major risk factor for lifestyle-related diseases and its prevention is essential in terms of public health. Body weight is influenced by a genetic predisposition as well as food intake, and exercise. In about 30% of the Japanese, a specific mutation [codon 64 TGG (Trp) →CGG (Arg)] of β3-adrenergic receptor gene is observed. The basal metabolic rate is about 200 kcal/day lower in the individuals with this type of mutation than in those without. We conducted a weight loss program which included analysis of β3-adrenergic receptor gene polymorphism, monitoring of eating behavior, and promotion for lifestyle modifications by public health nurses. The subjects for analyses were 39 Japanese men (mean age 37.8±8.6 years) and six Japanese women (46.8±6.4 years), with body mass index (BMI) over 24. They had not been receiving medical treatment for lifestyle-related diseases. The ratio of the normal group (no mutation at the specific site of β3-adrenergic receptor gene) to the mutation group were 73% to 27%. After we explained the results of the genetic testing to the participants, public health nurses encouraged them to change their lifestyle and provided dietary guidance. After 3 and 8 months intervention, reductions in BMI were observed 75% and 57% of the subjects in the normal group, and 92% and 67% of the subjects in the mutation group, respectively. At any time point, the changes were not statistically significant between the normal and mutation groups. Behavior modification was observed 49% of the subjects in the normal group and 75% in the mutation group. More than 80% of the participants were of the opinion that the genetic testing had been useful for them to reconsider their health status.
Mutation ; Receptors, Adrenergic ; Life Style ; Public health service ; gene polymorphism

OBJECTIVETo know the genotype and allele frequency distribution of D1S549, D3S1754 and D12S375 in Chinese Han population in the Qingdao area and to study the three short tandem repeat(STR) loci for genetic application.

METHODSACD-blood specimens were collected from the unrelated individuals in Qingdao. The DNA samples were extracted with the use of Chelex method and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by polyacrylamide gel electrophoresis and were visualized by silver staining.

RESULTSEight alleles were found at D1S549 locus, eight alleles at D3S1754 locus and five alleles at D12S375 locus, and 22, 19 and 14 genotypes were identified respectively. No deviation from Hardy-Weinberg equilibrium was observed in the three loci. The heterozygosities expected of them were 0.7988, 0.7087 and 0.75 respectively. The exclusion probability was calculated as 0.6592 for D1S549, and 0.5605 for D3S1754, and 0.5864 for D12S375. The discriminating power of the three loci were 0.9143, 0.8382 and 0.8861. Comparison of the allelic frequencies in Qingdao area with those in Hans of Chengdu area by chi-square test showed a difference statistically significant at D1S549 locus but no difference at D3S1754 and D12S375 loci.

CONCLUSIONThis study reveals the structure of the three loci and the obtained data are beneficial to understanding the population genetics in Chinese Han population. All of the three loci have higher chance of exclusion and higher discriminating power, and they will be useful markers for individual identification, paternity test and genetics purposes.

Polymorphism, Genetic ; Gene Frequency ; China ; Genetics, Population ; Microsatellite Repeats/genetics*

BACKGROUND: The effect of a single nucleotide polymorphism (SNP) of the micro-opioid receptor gene at nucleotide position 118 (OPRM1:118A > G) and the MDR1 gene (exon 26: C3435T) have an influence on the interindividual variability of clinical opioid pain therapy. This study aims to evaluate the correlation among pain control and side effects of epidural morphine and these pharmacogenetic modulators. METHODS: 194 patients who were undergoing abdominal surgery were included in the study. Patients received a morphine 2 mg bolus and 2 mg/day via epidural route. The VAS score and opioid side effects were checked at postoperative 6, 24 and 48 hr. Patients were genotyped for the known SNPs of the OPRM1 and MDR1. RESULTS: For the SNP of OPRM1, the mutated genotype frequency (homo-wild, heterozygous, and homo-mutants) were 36.8, 47.9 and 15.3%, respectively, and the mutated genotype frequencies for the MDR1 SNP were 46.7, 40.2 and 13.1%, respectively. There were no significant differences in the VAS scores and side effects among the three groups of OPRM1 and MDR1. Yet carriers of the mutated allele 3435 TT, CT of the MDR1 gene showed marginally greater significant sedation effects than did non-carriers (CC) (P = 0.065, the OR was 1.78, 95% CI 0.98-3.24, P = 0.059) and also a lower incidence of analgesic usage (P =0.058). CONCLUSIONS: In our data there was a large difference in OPRM1 SNP allele frequency for the Korean population compared to other populations. The SNP of OPRM1 and MDR1 genes did not have significant altered clinical morphine analgesia and side effects via the epidural route. But the SNP of MDR1 gene is more sensitive genetic predictor of the clinical side effects (especially for sedation) and analgesic effects by opioid.
Alleles ; Analgesia* ; Gene Frequency ; Genotype ; Humans ; Incidence ; Morphine* ; Polymorphism, Genetic* ; Polymorphism, Single Nucleotide