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Biomedical subjects

M Nata

Publications and source records attributed to M Nata.

10 recordsLinked to original sources

Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY.

OBJECTIVE: To investigate the mechanism of the formation of a tetragametic chimera with true hermaphroditism (46,XX/46,XY). DESIGN: Molecular biologic analyses. SETTING: Outpatient clinic and laboratories of a university hospital. SUBJECTS: A true hermaphrodite with 46,XX/46,XY and the parents. MAIN OUTCOME ANALYSIS: Restriction fragment length polymorphism (RFLP) of the pseudoautosomal region on sex chromosomes. RESULTS: Whereas a normal diploid individual showed two bands, the true hermaphrodite showed four bands in the RFLP analyses. Evaluation of the molecular weights of the bands revealed two of them to be of maternal origin and the other two to be of paternal origin. CONCLUSION: The two cell lineages composing the true hermaphrodite are heterogeneous because those originated from the fertilization of two genetically different maternal haploid cells by two different spermatozoa.

ABO Blood-Group System

Suppression of ischemia-reperfusion injury by liposomal superoxide dismutase in rats subjected to tourniquet shock.

To investigate the role of oxygen-derived free radicals in the pathogenesis of tourniquet shock, the authors present an experimental animal model. Two groups of rats were fastened with rubber tubes on both thighs (1.5 kg/cm2) for 6 h under pentobarbital anaesthesia. One group was administered liposomal superoxide dismutase (L-SOD 30,000 U/kg body weight), and the other liposome as a control 3 h prior to tourniquet removal. No rats in the control group (n = 20) survived more than 24 h after reperfusion, whereas 55% of animals treated with L-SOD (n = 20) survived for 24 h or more, and two recovered completely (P less than 0.005). Blood samples were obtained from the abdominal aorta after laparotomy of anaesthetized rats of both groups at different time intervals. Changes in the hematocrit value and blood urea nitrogen during the early periods after reperfusion were attenuated by prior administration of L-SOD, and the total plasma SOD activity of the control animals decreased promptly and continuously throughout the experimental period. This experimental model was very useful to study the pathogenesis of tourniquet shock with respect to reproducibility, induction of the shock stages and mortality. It is thought that oxygen-free radicals are involved in the induction of tourniquet shock, and L-SOD was, to a certain extent, effective against reperfusion injury in the early stages of shock.

Alanine Transaminase

Blood grouping of minute samples using monoclonal anti-A,B antibody.

The availability of a monoclonal anti-A,B antibody (AB-E6E2) for blood grouping of blood and saliva stains was investigated. The antibody, which was reacted with A, B and AB antigens but not with O antigen, was produced from BALB/c mouse-mouse hybridoma raised to group AB red blood cells. AB-E6E2 had heat-elutability enough to detect ABO antigens in blood and saliva stains by absorption-elution test, whereas it had extremely weak double combining potency in mixed agglutination test. Application of elution-ELISA method will enable the detection of smaller amount of ABH antigens. The antibody, therefore, would be useful to segregate group O minute samples from the other blood group ones.

ABO Blood-Group System

Application of single-locus hypervariable region DNA probes to deficiency cases in paternity testing.

Seven DNA probes which recognize single-locus hypervariable region (HVR) were applied to a paternity test in which the putative father and his wife were deceased. Three legitimate children, an illegitimate child and her mother were available for analysis. The cumulative paternity index of the illegitimate child derived from 15 conventional blood group markers was 18.71 and from 7 DNA probes 92,572.08, that is, 4,948 times higher than the former. Thus the DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the child. The application of highly discriminating polymorphisms of DNA which recognize single HVR loci is considered to be extremely informative in cases of disputed parentage.

Child

[Paternity test with single locus DNA probes].

Seven kinds of DNA probes recognizing hypervariable DNA loci were applied to 28 cases of paternity test, involving two cases in which the putative fathers had died. The combinations of probe and restriction enzyme are as follows; MR24/1-HinfI, 3'Globin-PvuII, Ha-ras-PvuII, Mucin-PvuII, D2S44 (pYNH24)-MspI, D17S30 (pYNZ22)-MspI, D1S57 (pYNZ2)-RsaI. The reported number of the alleles are 37, 39, 5, 10, 33, 15, and 5, respectively. Those probes lie on different chromosomes except D1S57 on 1p and Mucin on 1q21. Exclusion probability (EP) and paternity index (PI) were calculated from the allele frequencies in Japanese population reported by Yokoi et al. Cumulative EP from 7 DNA probes was 0.999932, and cumulative PI ranged from 7.3 X 10(6) to 947. Also, cumulative EP from 17 kinds of conventional blood group markers (CBGM) was 0.9776, and cumulative PI ranged from 1290 to 0.11. Total EP from 7 DNA probes and CBGM was 0.999998478. Cumulative PI from 7 DNA probes were 5 to 2,000,000 times higher than that from CBGM. The single locus hypervariable DNA polymorphisms are considered to be informative for paternity test.

DNA Probes

Hypervariable polymorphic VNTR loci for parentage testing and individual identification.

Three kinds of variable number of tandem repeat DNA probes (VNTR: pYNZ22, pYNH24, and pYNZ2) showing hypervariable polymorphisms were studied. Allelic frequencies and their confidence intervals among Japanese individuals were obtained. Co-dominant segregation of the polymorphism was confirmed in family studies. Two a priori probabilities were calculated for each VNTR locus: exclusion probabilities for an alleged father/mother/child trio and for an alleged parent/child duo, and probabilities of matching of genotyped two unrelated individuals or two siblings. Availability as well as highly discriminating polymorphic pattern of VNTR loci makes it potentially very useful for forensic and human genetic purposes.

Alleles

Investigation of paternity establishing without the putative father using hypervariable DNA probes.

Seven kinds of DNA probes which recognize hypervariable loci were applied for paternity test. The putative father was decreased and unavailable for the test. The two legitimate children and their mother (the deceased's wife) and the four illegitimate children and their mother (the deceased's kept mistress) were available for analysis. Paternity index of four illegitimate child was investigated. Allelic frequencies and their confidence intervals among unrelated Japanese individuals were previously reported from our laboratory, and co-dominant segregation of the polymorphism was confirmed in family studies. Cumulative paternity indices of four illegitimate children from 16 kinds of standard blood group markers were 165, 42, 0.09, and 36, respectively. On the other hand, cumulative paternity indices from 7 kinds of DNA probes are 2,363, 4,685, 57,678, and 54,994, respectively, which are 14, 113, 640, 864, and 1,509 times higher than that from standard blood group markers. The DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the children. Especially, the paternity relation of the third illegitimate child could not be established without the DNA analyses. Accordingly, DNA polymorphism is considered to be informative enough for paternity test.

DNA

Hypervariable regions of DNA for parentage testing and individual identification.

Four kinds of DNA probes that recognize hypervariable regions (HVR) were studied for parentage testing and individual identification. Allele frequencies and their confidence intervals among unrelated Japanese individuals were obtained. Codominant segregation of the polymorphism was confirmed in family studies. Two a priori probabilities were calculated for each HVR locus: the exclusion probabilities for an alleged father/mother/child trio and for an alleged parent/child duo, and the probabilities of matching of genotypes of two unrelated individuals or two siblings. The ease of availability of the probes and their highly discriminating polymorphic patterns mean they could be very useful for forensic purposes.

Alleles

An unexcluded paternity case investigated with hypervariable DNA loci.

A paternity case involving a putative father, a child, and the mother was referred to our laboratory for testing. Parentage was not excluded with 23 kinds of standard blood group markers and HLA, but the putative father requested more-affirmative evidence of paternity. Seven kinds of DNA probes that recognize hypervariable loci were applied. On the basis of the allelic frequencies and their confidence intervals previously reported among unrelated Japanese individuals, as well as confirmed codominant segregation of the polymorphism, the exclusion probability and paternity index were calculated for this case. The cumulative paternity index from the seven DNA probes was 1.4 x 10(6), which was 316 times higher than that from the 23 standard blood group markers and HLA. Accordingly, DNA polymorphism is considered to be informative enough for paternity testing.

Blood Grouping and Crossmatching