Humangenetik最新文献

A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in amniotic fluid and were reduced in cultivated amniotic fluid cells, and (2) cytoplasmic inclusions were seen in cultivated amniotic cells by phase contrast microscopy. The accuracy of prediction was confirmed by cultured skin fibroblast of the aborted fetus.

In a sample of 500 persons, including 76 families with 133 children, 22 mono- and 17 dizygote twins, lip prints were prepared for the study of variability and genetical basis of ridge-pattern in the region of mucous membrane lips. Taking 4 classes of pattern with different ridge-branching as a basis we observed more frequently branched pattern at the upper lip and mainly simple pattern at the lower lip. About 30% of the lip-prints showed whirling figures--at the upper lip simple and median, at the lower lip double and paramedian. Investigations during several months showed stability against environmental factors. The results of twins, families and mother(father)-child combinations proved a genetical basis of lip-prints. Applications of cheiloscopy to genetical investigations are reported.

A standardized Q- and acridine orange (AO)-fluorescence dual marker technique was described. It involved preservation of unstained chromosome slides in a vacuum desiccator up to 18 months, Q-staining, destaining, and treatment in Hanks' solution, pH 5.1, at 85 degrees C for 13 min, and acridine orange staining. Q-markers were found at the paracentromeric regions of chromosomes 3 and 4, the short arms and the satellites of the acrocentric chromosomes, while AO-marker spots were on the satellite-stalks of the acrocentrics. The advantage of the dual marker technique was illustrated by the determination of the origin of trisomy 22 in a spontaneous abortus.

A new deficient G-6PD variant, Gd(--) Abrami, was found in granulocytes, platelets and red blood cells of a 65-year-old woman with myelofibrosis. Enzyme and immunological titrations showed that only the deficient variant was present in blood cells whereas both the normal and abnormal enzymes were found in the fat cells of this patient. These results seem to indicate that the granulocytes, platelets and erythrocytes of this woman with myelofibrosis have arisen from a single abnormal precursor the functional X chromosome of which is the one carrying the abnormal G-6PD gene.

A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.

Among 13 Ph-positive cases of chronic granulocytic leukemia (CGL), banding studies revealed two with complex rearrangements involving translocation of the long arm of number 22 to another autosome and a segment of that chromosome translocated to the long arm of number 9. In a patient with both CGL and sickle cell anemia, the 3-way rearrangement involved chromosomes 5, 9, and 22; and he also had a second Philadelphia chromosome and two constitutional variants: pericentric inversion of the other number 9 chromosome and satellite polymorphism in the G group. The karyotype of the leukemic cells was interpreted as: 47,XY,inv(9) (p11q13),t(5;9;22)(q13;q34;q11)+del(22)(q11). In the second patient, the complex translocation in the Ph-positive cells involved chromosomes 3, 9, and 22, resulting in a karyotype interpreted as: 46,XX,t(3;9;22)(p21;q34;q11). Several reports indicate that an abnormality of chromosome 9 is not essential for the development of Ph-positive CGL, but the very high frequency of its involvement (including these unusual translocations) suggests that some type of non-random somatic association may exist between 9q and 22q which makes simultaneous breakage likely. Attempts to correlate specific types of pH chromosome rearrangements with the clinical course of CGL must await the identification of more cases and longer follow-up.

Nearly three and a half thousand sera obtained from various populations were tested serologically to obtain evidence of past infection with influenza A viruses that were prevalent from 1947 to 1972. No significant difference was found between the distributions of the levels of these antibodies of individuals of blood groups A and O, A1 and O, Rh (D+) and Rh (D-) and MM, MN and NN. The significance of these findings is discussed.

Chromosome analysis has been made of 11148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000. The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations. The incidence of most chromosome abnormalities in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare then with controls, treat them when needed and give advice to the parents of such children.

Male New Zealand White rabbits were immunized with human adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which were purified about 2000-fold and 800-fold, respectively, from erythrocytes by DEAE-cellulose chromatography, ammonium sulfate precipitation and preparative polyacrylamide gel electrophoresis. Specific immunoprecipitations of APRT and HGPRT were achieved with the antisera that were obtained and by using polyethylene glycol as a substitute for goat anti-(rabbit) gamma globulin. The activities of the human forms of these enzymes, whether from red blood cells or from cultured cells, were almost completely eliminated under the conditions of immunoprecipitation used. Little or no reduction of APRT and HGPRT activities from mouse and Chinese hamster cells was observed. This discriminatory capacity of the antisera was successfully used for the identification of human APRT and HGPRT in human-mouse and human-hamster cell hybrids using the immunoprecipitation reaction.