Goichi Ishimoto

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

Abstract Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism analysis and antithetic forms of the polymorphic exons were linked with each other, cosegregating as distinct sequence haplotypes. In Finnish, German, and Russian populations a total of 18 haplotypes were observed of possible 72 haplotypic combinations of the 5 exons. Ten of the haplotypes detected were found to have no novel mutations but to be only combinations of preexisting mutations. No tightly associated combinations in pairwise comparisons between antithetic forms of the polymorphic exons were observed, indicating that there may be recombinational hotspots within the F13A gene region.

A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products

Abstract We have encountered a paternity case where exclusion of the putative father was only observed in the ABO blood group (mother, B; child, A1; putative father, O), among the many polymorphic markers tested, including DNA fingerprints and microsatellite markers. Cloning a part of the ABO gene, PCR-amplified from the trio’s genomes, followed by sequencing the cloned fragments, showed that one allele of the child had a hybrid nature, comprising exon 6 of the B allele and exon 7 of the O1 allele. Based on the evidence that exon 7 is crucial for the sugar-nucleotide specificity of A1 and B transferases and that the O1 allele is only specified by the 261G deletion in exon 6 of the consensus sequence of the A1 allele, we concluded that the hybrid allele encodes a transferase with A1 specificity, resulting, presumably, from de novo recombination between the B and O1 alleles of the mother during meiosis. Screening of random populations demonstrated the occurrence of four other hybrid alleles. Sequencing of intron VI from the five hybrid alleles showed that the junctions of the hybrid alleles were located within intron VI, the intron VI-exon 7 boundaries, or exon 7. Recombinational events seem to be partly involved in the genesis of sequence diversities of the ABO gene.

Gc revisited: Six further Gc-phenotypes delineated by isoelectric focusing and by polyacrylamide gel electrophoresis

SummarySix newly observed Gc variants are described. The variants Gc 1A10, 1A11, 1A12, 1A13, and 1C11 have double band patterns. The anodal bands of these variants are susceptible to neuraminidase treatment. Gc 2A7 is a single band variant which is not altered by neuraminidase incubation. Polyacrylamide gel isoelectrofocusing with immunofixation and polyarcylamide gel electrophoresis appear to be efficient methods for the analysis of the Gc system.

Hemoglobin variation in macaques

A total of 1,333 hemolysates obtained from six different species of macaques,M. fuscata, M. cyclopis, M. mulatta, M. speciosa, M. nemestrina, andM. irus, were examined by starch gel electrophoresis. Three major hemoglobins, tentatively designated S, F, and P, and one minor component were found among the samples, in which P and a minor component were observed only in some samples ofM. irus. The hemoglobin types observed and their incidence in each species agreed, on the whole, with results reported by earlier workers. However, in addition to marked differences among macaque species, there existed striking geographical differences in the distribution of hemoglobin components within the same species. The distribution of hemoglobin types observed among the species are presented, together with the results of the determination of hemoglobin concentration in a two-band type and those of the alkali-resistant pigment of the macaques.

Intraspecies variations of red cell enzymes and hemoglobin inMacaca irus

Blood samples ofMacaca irus imported from Cambodia and the Philippines were examined by starch gel electrophoresis for red cell acid phosphatase, phosphoglucomutase, and hemoglobin variations.Two different types, each showing two and three zones with acid phosphatase activity, were observed in 172 cynomolgus monkeys. Variant (less common) type was detected in only eight of 113 in the Cambodian group.Individual differences in the distribution of phosphoglucomutase isoenzymes were also found in the monkey samples. Five different types were distinguished in 145 samples examined, but no possible explanation for genetic control can be given for the observed patterns.In addition to the usual hemoglobin found in all the hemolysates, fastmigrating hemoglobin components were demonstrated in 36% of 172 samples. A striking difference in the distribution of the hemoglobin types was found between the Cambodian and the Philippine groups.The obtained results probably indicate the existence of strong geographical effects on protein polymorphisms in cynomolgus monkey.

A Field Study of Infection with Human T‐Cell Leukemia Virus among Asian Primates

African non‐human primates were surveyed seroepidemiologically for natural infection of human T‐cell leukemia virus type I (ATLV/HTLV‐I) or its closely related virus(es). Materials from three genera (Cercopithecus, Papio, and Theropithecus), four species (grivet monkey, Anubis baboon, Hamadryas baboon, and gelada), totalling 983 animals under natural conditions, were obtained in a field study in Ethiopia. Virus infection was determined by the indirect immunofluorescence test using HTLV‐I specific antigens. Animals seropositive for HTLV‐I were found among grivet monkeys and Anubis baboons including the hybrid offspring between Anubis and Hamadryas baboons but not pure‐Hamadryas baboons and geladas. From these results, the HTLV‐I family was proved to be widespread on the African continent and was regarded as a common retrovirus among catarrhines.

Hemoglobin Types of Gibbons and Leaf-Monkeys

Electrophoretic patterns of hemoglobin were observed in 61 samples from gibbons and in 29 samples from leaf-monkeys. In gibbons, three hemoglobin types, involving two main molecules with a minor component, were found. The two gibbon hemoglobins were presumed to differ in their corresponding beta chain. It is characteristic that each of the three hemoglobin types was present in three different species of gibbons. In three species of leaf-monkey, only one hemoglobin was observed, showing electrophoretic mobility very similar to human Hb-A.

A Case of Paternity Testing Influenced by the Silent Allele of Rh Erythrocyte Groups

A paternity test is presented in which a father and his two children possessed an extremely rare amorphic gene R-29 (r,---). One of the children was determined to be illegitimate at the first trial as her Rh phenotype was R2R2(ccDEE) and the fathers phenotype was R1R1(CCDee). At the Court of Appeal, however, the rare Rh gene r(---) was shown to be inherited from the father to the appellant child through extended tests including her brother whose phenotype was also R2R2(ccDEE). She was acknowledged to be legitimate.