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Biomedical subjects

T Kajii

Publications and source records attributed to T Kajii.

At least 37 records · Page 2Linked to original sources
PubMed1993

Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence.

The fragile X syndrome is the most common familial form of mental retardation. The mutation causing the syndrome is dynamic mutation due to an unstable DNA (CCG)n repeat localized at Xq27.3. We have previously reported a PCR procedure to prepare a diagnostic probe, pPCRfx1, which can be used to determine the genotype of fragile X mutation individuals by Southern blot analysis. In the present study, pPCRfx1 was applied to the prenatal diagnosis, using chorionic villus cells, of a fetus which was at risk of having fragile X syndrome. In the PstI assay, the Southern blot showed the typical pattern of a female carrier with the full mutation. Analysis of the DNA methylation patterns by EcoRI + EagI assay showed that the EagI restriction site was not methylated on the mutated X chromosome of chorionic villi, but the sites were totally methylated in the brain and other tissues of the fetus. Thus the fetus was diagnosed to be a heterozygous female carrier of the dynamic mutation involved in the fragile X syndrome.

Blotting, Southern↗
PubMed1993

Dicentric Y chromosome in azoospermic males.

Two azoospermic, infertile men with a pseudodicentric Y chromosome are reported. The small isodicentric Y chromosomes were composed of duplicated short arm and proximal long arm Y, as proven by fluorescence in situ hybridisation using a Y centromere-specific DNA probe, pDP97, and a short arm probe pY-80. Both lacked germinal cells in the gonads. It was assumed that the azoospermia was caused by deletion or disruption of the azoospermic factor gene located at distal Yq11. Patient 2 measured 147 cm (-4.1 SD) in height and so it was assumed that he had also lost the "statural determinants" gene.

Adult↗
PubMed1992

Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases.

Chromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY, + 13;46,XX/47,XX, + 14;46,XY/47,XY, + 18;46,XX/47,XX, + 18;46, XX/47,XX, + mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo- or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blachko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers.

Adolescent↗
PubMed1992

Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.

Leukocyte adhesion deficiency is a disorder with mutations of the gene for the beta subunit, a component common to three adhesion molecules; LFA-1, Mac-1 and p150,95. The molecular basis of the disorder was studied in two patients with its severe form. In the first patient, the mutant gene expressed an aberrant mRNA, 1.2 kb longer than usual, resulting from a G to A substitution at the splice donor site of a 1.2 kb intron. Several aberrantly spliced messages, arising from splicing at cryptic donor sites, were also identified. The beta subunit proteins deduced from the mRNA sequences lacked half the carboxyl terminal portion. In the second patient, the mutation was a G to A transition at nucleotide 454, which resulted in an Asp128 to Asn substitution of the beta subunit. The 128th Asp residue is located in a region crucial for the association with alpha subunits and strictly conserved among the integrin beta subunits so far analyzed.

Adult↗
PubMed1992

Physical parameters in Japanese newborns.

A total of 19 physical parameters of the head, face, chest, and the fingers were examined in Japanese 50 male and 50 female newborns, measured 8 to 64 hr after birth. Exceptional values were excluded referring to the estimated mean and standard deviations. Normal values are presented as mean +/- 2 S.D. for each sex. As compared with Caucasian newborns, the Japanese newborns showed longer inner canthal and shorter outer canthal distances, shorter ear lengths, and longer palm and middle finger lengths.

Anthropometry↗
PubMed1992

Telomere association of human chromosomes induced by aphidicolin.

Telomere associations were studied in metaphase chromosomes from 96-h cultures of peripheral blood lymphocytes of two healthy women, treated with 0.4 microM aphidicolin for the last 72 h. Telomere associations were encountered in 2.9% and 3.2% of the metaphases screened, whereas no such associations were encountered in 5-fluorodeoxyuridine-treated cultures. The chromosome arms involved in telomere associations were nonrandom: 1q, 2q, 3q, 6p and 16q were more frequently involved in the associations (P less than 0.01). Of the 51 combinations of telomere associations encountered, those occurring nonrandomly were 1q/2q, 2q/2q, 4q/4q, 6q/6q and 6p/6p associations.

Adult↗
PubMed1992

Enzyme-linked immunoassay of haptocorrin: analysis of milk and granulocytes.

An enzyme-linked, sandwich-type immunoassay method was described for quantitive assay of haptocorrin. The ranges of haptocorrin concentrations measurable by the method were comparable with those by radioimmunoassay. Using the method, the mean +/- SD of haptocorrin was 4.83 +/- 1.23 micrograms/ml in the colostrum (4th and 5th days after parturition), 3.17 +/- 1.77 micrograms/ml in the mature milk, and 21 ng/10(4) granulocytes (634 ng/mg protein). Haptocorrin from milk showed a homogeneous band at 66 kDa on SDS polyacrylamide electrophoresis followed by immunoblotting, while that from the granulocytes exhibited several closely aligned bands at 80 kDa and one or two bands at around 20 kDa.

Colostrum↗
PubMed1992

Y-derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization.

A 10-year-old girl and a 10-month-old girl, both with ambiguous genitalia, were found to have 45,X/46,X,mar and 45,X/46,X,r(?) mosaicism. The marker chromosomes in both girls were very small. Polymerase chain reaction, with synthetic oligonucleotide primers from Y-specific DNA sequences pY-80 and pY53.3 containing the sex-determining region Y(SRY), proved the marker chromosomes to contain the Y short arm material. In situ hybridization with probe pY-80 confirmed that the marker chromosomes included the Y short arms. These findings, together with ambiguous genitalia in the girls, indicate that the marker chromosomes include the testis-determining factor gene.

Base Sequence↗
PubMed1992

Hairy throat: a dominant trait affecting seven members of a family.

Hypertrichosis was noted on a confined area of skin in the midline of the throat, just cranial to the laryngeal prominence, in three males and four females through three generations of a Japanese family. The proband, an 11-year-old girl, in addition had a 46 X,i(Xq) karyotype, short stature and other stigmata of the Turner syndrome. Her mother and one younger brother both had a hairy throat on examination. On the mother's side, the proband's grandmother, aunt, uncle and a male cousin, all reportedly had a hairy throat. No instance of male-to-male transmission was present. The trait was thus inherited as either an autosomal or X-linked dominant.

Adult↗
PubMed1991

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)

We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The fingerpads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.

Abnormalities, Multiple↗
PubMed1991

Hyperekplexia: pedigree studies in two families.

We report on 2 unrelated Japanese families, each with several individuals affected with hyperekplexia, a rare autosomal dominant form of exaggerated startle response of neonatal onset. In the first family, affected relatives included a 4-week-old boy, his mother, grandmother, a maternal uncle, and 2 maternal cousins. In the second family, affected were a 4-week-old boy, his father, and an elder brother. These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus and an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in relieving these manifestations in the affected infants and children. Genetic analysis of these 2 families and 4 others in the literature suggests autosomal dominant inheritance with considerable variability but complete penetrance. Another 3 families in the literature were reported, suggesting the existence of startle disorder with an autosomal recessive inheritance. A sporadic case is also known, presumably representing a fresh mutation of a dominantly inherited trait.

Adolescent↗
PubMed1991

Cardio-facio-cutaneous (CFC) syndrome: report of two patients without hyperkeratotic skin lesions.

We report on two boys with the cardio-faciocutaneous (CFC) syndrome, but without hyperkeratotic skin involvement. They showed most of the manifestations of the CFC syndrome: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and heart defects. Their skin was not hyperkeratotic, but patient 1 had mild atopic dermatitis and keloid-like depigmented spots.

Abnormalities, Multiple↗
PubMed1991

Prenatal diagnosis of infantile hypophosphatasia.

Prenatal diagnosis was attempted in a pregnant Japanese woman whose son had died of infantile hypophosphatasia, using chorionic villi sampled at 10 weeks of gestation. Southern blot analysis of restriction fragment length polymorphism was used as a guide, with cDNA for the human liver-type alkaline phosphatase as a probe, and BclI as a restriction enzyme. The fetus was found to be a heterozygote; the pregnancy was allowed to continue; and the baby born was phenotypically normal.

Alkaline Phosphatase↗