Intra-oral temperature variation over 24 hours.
(49/8027)
This study aimed to investigate temperature variation at archwire sites adjacent to the maxillary right central incisor and first premolar, its correlation with ambient temperature, and the influence of inter-racial variation. Twenty young adult male subjects were randomly selected (13 Asian, seven Caucasian). Thermocouples were attached to the labial archwire component of custom-made orthodontic retainers at the two intra-oral sites. A third thermocouple measured ambient temperature. A data-logger recorded temperatures at 5-second intervals over a 24-hour period. Temperatures ranged from 5.6 to 58.5 degrees C at the incisor and from 7.9 to 54 degrees C at the premolar, with medians of 34.9 degrees C and 35.6 degrees C, respectively. Ambient temperature correlated poorly with the intra-oral temperatures. The Asian and Caucasian groups had significantly different temperature distributions. On average during the 24-hour period, temperatures at the incisor site were in the range of 33-37 degrees C for 79 per cent of the time, below it for 20 per cent, and above it for only 1 per cent of the time. Corresponding figures for the premolar site were 92, 6, and 2 per cent. At both archwire sites the most frequent temperatures were in the range of 35-36 degrees C. The data presented demonstrate that the temperature at sites on an archwire in situ varies considerably over a 24-hour period and that racial differences may exist. This information should be considered during the manufacture and use of temperature-sensitive orthodontic materials, in particular nickel-titanium archwires and springs. (+info)
Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
(50/8027)
BACKGROUND: The incidence of colorectal cancer in persons under 46 years of age is substantially higher in Hong Kong than in Scotland and many other countries. Consequently, we examined whether there is a hereditary predisposition for colorectal cancer in this Southern Chinese population. METHODS: We investigated the incidence of microsatellite instability (MSI) at 10 DNA sites in 117 colorectal cancer specimens from Chinese patients of various ages. Those tumors with new alleles at 40% or more of the sites investigated were identified as highly unstable MSI (MSI-H). In young patients, we also searched for germline mutations in three mismatch repair genes (hMSH2, hMLH1, and hMSH6). RESULTS: The incidence of MSI-H varied statistically significantly with age, being observed in more than 60% of those younger than age 31 years at diagnosis and in fewer than 15% of those age 46 years or older. In 15 patients (<46 years old) whose colorectal cancers showed MSI-H, eight possessed germline mutations in either hMSH2 or hMLH1. When mutations in hMSH6 were included, more than 80% of Chinese colorectal cancer patients younger than 31 years had germline mutations in mismatch repair genes. We found a novel germline missense mutation in hMSH6 in a 29-year-old man whose tumor showed no MSI. Two patients had a 4-base-pair insertion in exon 10 causing a truncated protein; this insertion is a common polymorphism with a population allele frequency in Chinese of 5.6%. CONCLUSIONS: Our results indicate that germline mutations in mismatch repair genes contribute substantially to the pathogenesis and high incidence of colorectal cancer in young Hong Kong Chinese. However, because young Chinese and Caucasians show similar proportions of colorectal cancers with MSI-H, despite the higher incidence in the former, additional factors may underlie the high susceptibility of young Chinese to colorectal cancer. (+info)
Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.
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In contrast to CuZn superoxide dismutase (SOD), only a very limited number of mutations have been described in MnSOD. One interesting example is a polymorphism (Ala-9Val) in the mitochondrial targeting sequence of this radical-scavenging enzyme. We have studied the Ala-9Val polymorphism in various ethnic groups by means of the oligonucleotide ligation assay. There were significant variations in this unique polymorphism between three different language groups: Baltic (Lithuanians), Finnic (Finns and Saamis) and Germanic (Swedes). The Ala frequency in an Asiatic population (Chinese) was significantly lower than in most European populations. This polymorphism may affect the mitochondrial targeting rate of MnSOD which may result in mitochondrial damage with implication in various late-onset neurological diseases. (+info)
Allelic frequencies of six (CA)n microsatellite markers of the dystrophin gene in the Korean population.
(52/8027)
Using the polymerase chain reaction, we examined the allele frequencies and heterozygosities of six (CA)n markers of the dystrophin gene in Koreans. Allele frequencies of these markers were different from those reported for Caucasians. The heterozygosity values for these markers range from 29 to 86%. With the exception of the STR50 marker, these values were lower than those of Caucasians. However, all markers except for the 3'CA marker showed PIC values over 0.5, suggesting a high degree of polymorphism. Therefore, this study will be useful in linkage analysis for Duchenne and Becker muscular dystrophy families in the Korean population. (+info)
Mapping recombination hotspots in human phosphoglucomutase (PGM1).
(53/8027)
Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8, and are 40 and 18 kb apart, respectively. Using 12 polymorphic markers, including 2/1 and +/-, we have now obtained direct evidence for a high rate of intragenic recombination across this 58 kb region. From segregation analysis of PGM1 haplotypes in CEPH families, the recombination frequency was estimated to be 1.7%. We have also used a population genetics approach to map the patterns of linkage disequilibrium across the PGM1 gene in three diverse population samples (Caucasian, Chinese and Vietnamese). This has allowed us to compare indirect estimates of intragenic recombination with the meiotic data from family studies. Comprehensive pairwise allelic association analysis of the markers indicated the presence of two recombi-nation 'hotspots': one between exons 1A and 4 and the other in the region of exon 7. These locations are in keeping with the meiotic data and with the original hypothesis of intragenic recombination based on PGM1 isozyme analysis. (+info)
A role for the polymorphism at position 247 of the beta2-glycoprotein I gene in the generation of anti-beta2-glycoprotein I antibodies in the antiphospholipid syndrome.
(54/8027)
OBJECTIVE: To determine the frequencies at which either a valine or leucine occurs at position 247 in the beta2-glycoprotein I (beta2GPI) gene of normal individuals of the Caucasian, African American, and Asian ethnic groups and to compare these data with those in patients with the antiphospholipid syndrome (APS), with and without anti-beta2GPI antibodies. METHODS: The DNA segment containing the position-247 polymorphism was amplified by seminested polymerase chain reaction, and the polymorphism was detected by restriction endonuclease digestion. DNA samples from 370 healthy controls of different racial backgrounds were analyzed, and the results were compared with those from 149 APS patients (66 primary; 83 secondary). Allele and genotype frequencies were compared using Fisher's exact test. When significant differences were detected, pairwise comparisons were made using Fisher's exact test with a Bonferroni adjustment. RESULTS: Allele and genotype expression was significantly different (P < 0.0001 for both) among the 3 races, with the V allele and the VV genotype occurring most often among Caucasians, less among African Americans, and least among Asians. Conversely, the V allele and the VV genotype were found more frequently among Asian APS patients than among controls (P = 0.0028 and P = 0.0023, respectively). No significant differences in allele or genotype frequencies were seen in comparisons of the Caucasian or the African American patients with appropriate controls. The differences in allele and genotype frequencies seen in the Asian APS patients were restricted to the anti-beta2GPI-positive patients (P = 0.0018 and P = 0.0005, respectively). CONCLUSION: In Asian patients with APS, expression of a V at position 247, especially in the homozygous state, is significantly associated with the presence of anti-beta2GPI antibodies and, therefore, can be viewed as a major risk factor in this ethnic group (odds ratio 9.19 and 16.33, respectively). (+info)
Population distributions of allele frequency of apolipoprotein E by age and gender in Han Chinese.
(55/8027)
AIM: To study apolipoproteins E (ApoE) allele frequency in Han Chinese based on age and gender from Shanghai metropolitan area. METHODS: Healthy Han Chinese people (F: 237 and M: 412) were involved in this study. ApoE gene was amplified by PCR using the forward primer: 5'-GGC ACG GCT GTC CAA GGA GCT-3' and reverse primer: 5'-GAT GGC GCT GAG GCC GCG CT-3'. The PCR product was digested directly with 5 units of CfoI and separated by a 20% polyacrylamide nondenaturing gel. RESULTS: ApoE*3 was the commonest allele which accounted for 86.4% of the isoforms, and ApoE*2 and ApoE*4 accounted for 6.2% and 7.5%, respectively. The allele and genotype frequencies were in Hardy-Weinberg equilibrium by comparison with that of the corresponding theoretical distribution (P > 0.05). CONCLUSION: The frequencies of ApoE*2, ApoE*3, and ApoE*4 were demonstrated in the normal Chinese population. (+info)
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
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We analyzed the androgen receptor (AR) gene in five Japanese patients diagnosed with androgen insensitivity syndrome (AIS). All AR genes from the five patients had single-nucleotide substitutions, which introduced a premature termination codon in three patients (Gln640, Arg752, and Gln640 and Trp751), and a single amino acid substitution in two patients (Arg831 to Gln, and Leu812 to Phe). All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS. Pubic skin fibroblasts from four of the five patients did not show detectable androgen binding. These data on mutations that have not been reported previously, provide valuable information for the further characterization of structural and functional relationships in the steroid-binding domain of the AR protein. (+info)