イデン イガク ノ ゲンジョウ

Human Genome Project reached around the corner where almost all three thousands million bases consisting human genome were determined. Though this was the fantastic job accomplished by the joint effort of multiple sectors, the coming era of genes may face many ethical, economical and social issues. Standing on that point, we have discussed the advances in each research and clinical field including genetic tumors, genetic diagnosis, genetic counselling, pharmacogenomics and gene therap

ゲノム ソウヤク ト イデンシ チリョウ ノ ガイネン ト ゲンジョウ

Recently, generation of new drugs based on human genetic information and gene therapy attract a great deal of attention. Now, many researchers are pursuing single nucleotide polymorphisms (SNPs) associated with sensitivity of diseases and drugs. Furthermore,methods such as the DNA microarray are realizing to analyze human genetic information systematically and comprehensively. Gene therapy is also developing now. However, there are many problems to dissolve for establishment of the new medicine based on individual genomic information and of gene therapy in Japan

Anomalous Separation of Small Y-Chromosomal DNA Fragments on Microchip Electrophoresis

We investigated an anomalous DNA separation where two DNA fragments from the human Y-chromosome sY638 (64 bp) and sY592 (65 bp), with only one base pair difference, were separated. This result is abnormal since in a previous study, we found that 5 bp was the minimum difference between two DNA fragments that the microchip electrophoresis system can separate. The formation of a mini-loop in the structure of the DNA fragment of sY638 (64 bp) was strongly expected to be the reason. To investigate this, we synthesized three modified DNA fragments for sY638 (64 bp), and the modifications were in two expected locations for possible mini-loop formation. Later, the separation between sY592 (65 bp) and the three modified fragments of sY638 (64 bp) was not possible. Thus, we conclude that the formation of a mini-loop in the structure of the DNA is the reason behind this anomalous separation

Fibrinogenolytic activity of a novel trypsin-like enzyme found in human airway

Previously we isolated a new trypsin-like enzyme designated human airway trypsin-like protease (HAT) from human sputum. In this study,we examined in vitro whether HAT was related to the prevention of fibrin deposition in the airway lumen by cleaving fibrinogen. In mucoid sputum samples from patients with chronic airway diseases, the concentration of fibrinogen, as measured by ELISA, was in the range of 2-20μg/ml, and trypsin-like activity, as measured by spectrofluorometry was in the range of 10-50 milliunits (mU)/ml. We showed by gel filtration that the trypsin-like activity of mucoid sputum was mainly due to HAT. We examined the effects of HAT on human fibrinogen at pH 7.4 and 8.6. Fibrinogen was used at concentrations of 4-2,000μg/ml and HAT purified from sputum at concentrations of 0.6-10 mU/ml. As shown by SDS-polyacrylamide gel electrophoresis, HAT cleaved fibrinogen, especially its α-chain, regardless of the concentration of fibrinogen. Pretreatment of fibrinogen with HAT resulted in a decrease or complete loss of its thrombin-induced clotting capacity, depending on the duration of pretreatment with HAT and the concentration of HAT. From these results we postulated that HAT may participate in the anticoagulation process within the airway, especially at the level of the mucous membrane, by cleaving fibrinogen transported from the blood stream

Evaluation of the effectiveness of laser in situ keratomileusis and photorefractive keratectomy for myopia : A meta-analysis

Objective: To evaluate the effectiveness of laser in situ keratomileusis (LASIK) and photorefractive keratectomy (PRK) for correcting myopia. Methods : Study selection, data extraction, and quality assessment were performed by two of authors independently. Summary odds ratios and 95% confidence intervals were calculated by DerSimonian amp Laird random-effects model and Mantel-Haenszel (fixed-effects) model. All calculations were based on an intention-to-treat and per protocol analysis. Results : Five hundred and eighty eyes (476 patients) from5 randomized controlled trials were included in this study. At≧6 months follow-up, by random-effects model, the pooled odds ratios (OR, for LASIK vs. PRK) of postoperative uncorrected visual acuity (UCVA) of 20/20 or better for all trials were 1.31 (95% CI=0.77-2.22) by per protocol analysis and 1.18 (95%CI=0.74-1.88) by intention-to-treat analysis. In the refractive outcome, the pooled OR of the postoperative spherical equivalent refraction within±0.5diopter (D) of emmetropia didnot show any statistical significance, for which the OR were 0.75 (95% CI=0.48-1.18) by per protocol analysis and 0.70 (95% CI=0.47-1.04) by intention-to-treat analysis. Conclusions : LASIK and PRK were found to be similarly effective for the correction of myopia from-1.5 to -15.0 D in a greater than 6 month follow-up

Two Y-chromosome-specific polymorphisms 12f2 and DFFRY in the Japanese population and their relations to other Y-polymorphisms

This study of male-specific genetic markers in the Japanese population was carried out in an attempt to refine the existing theories concerning its population genetics and migration events. We examined the relation between the constructed haplotypes of three biallelic Y-chromosome-specific markers (YAP, 47z and SRY) and the results of studying two other Y-specific polymorphisms of both 12f2 and DFFRY markers. The 12f2 marker was completely absent in 14.7% of Japanese males ; all of them were haplotype II males. None of the Japanese males from other haplotypes or other East Asian populations showed any deletion of 12f2. In all haplotype II Japanese men, we found that DFFRY gene harbors a (C→T) substitution polymorphism that was not found in any other population of this study. These results suggested that although haplotype II Japanese males share with the other haplotype II men from different geographical areas in having the YAP insertion on their Y-chromosomes, their Y-chromosomal structure is somewhat characteristically different. They are probably descendants of the ancestral Jomonese population who lived in Japan before the Yayoi immigrants entered Japan ˜2300 years ago. These findings suggested that linkage studies between Y-specific markers are helpful in understanding the migratory patterns in East Asia. We also suggested that Japanese males have characteristically different Y-chromosomes compared with other populations

Tracking overweight and obesity in Japanese children ; a six years longitudinal study

Childhood overweight/obesity is growing steeply, globally. It is usually regarded as a risk factor for severe obesity over life-time course. Here, we investigated temporal course of overweight/obesity development in Japanese school children. A six-year longitudinal study was performed on 16,245 Japanese primary school children (8,427 boys and 7,818 girls) comprising three cohorts of 1st~3rd grade. A baseline survey was conducted at 2001, followed by annual baseline studies from 2002~2007 to determine the prevalence and track overweight/obesity. Our results showed that the prevalence of overweight was 15~23% in boys and 15~18% in girls, however, for obesity it ranged between 4~7% in boys ; and 2~4% in girls. As regards for tracking status, 60~80% of overweight and 35~70% of obese Japanese primary school boys track into overweight or obese junior high school adolescents. However, these percentages are lower among primary school girls, where only 50~70% overweight and 30~60% obese primary school girls track into overweight and obese adolescents, respectively. We conclude that Japanese boys are fatter than girls ; and ~80% of overweight/obese Japanese primary school children track into junior high school overweight/obese adolescents