Familial occurrence of trisomy 22.
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Biomedical subjects
Publications and source records attributed to I A Uchida.
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A simple but reliable technique has been developed for the mailing of plasma to chromosome laboratories for cytogenetic analysis. Cultures have been grown successfully from plasma which has been as long as four days in transit. Plasma is removed after heparinized whole blood has been left standing at room temperature for at least three hours. Phytohemagglutinin (0.1 ml. PHA/ml. plasma) and two to three drops of red cells are added to the plasma, and the specimen is immediately transmitted by air mail to the nearest cytogenetic laboratory. Sterile technique is used throughout.
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In search of an animal model for the human fragile X syndrome, the chromosomes of Holstein cows were examined. This breed was chosen because of previous studies on the baldy calf syndrome. An achromatic gap was observed at a specific site on the X chromosome closer to the centromere than that identified in humans. This unstained gap was found in 3%-4% of cells of the following four animals: an affected calf, her sister, their mother, and an unrelated Holstein cow. The bovine fragile X may not be analogous to the human fragile X but its location may be important as a genetic marker in linkage studies involving the loci for hypoxanthine phosphoribosyltransferase (HPRT) and glucose-6-phosphate dehydrogenase (G-6-PD).