Search results for "human genetic"
showing 10 items of 209 documents
Investigations on the genetics and population genetics of the ?2 polymorphism
1970
The results of studies on 49 families with 107 children and various populations of Caucasoid, Negroid and Mongoloid origin concerning the genetics and population genetics of the β2-glycoprotein I polymorphism are reported. In general the genetical model proposed by Cleve (1968) is confirmed: two autosomal alleles BgN and BgD controlling the phenotypes Bg N-N, Bg N-D and Bg D-D. However, divergences from this model were found in two families. They indicate the assumption of non-genetic factors influencing the phenotype expression rather than more complicated genetical control mechanisms. Within Caucasoid populations phenotype and gene frequencies show almost a homogeneous distribution. This …
Reciprocal translocation t(1;18)(p32;q21) in a patient with some phenotypical anomalies
1987
The authors report on a case of 1;18 translocation and request contact with any colleagues who have observed similar cases.
Inherited pericentric inversion of human chromosome 5.
1983
Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee
Patterns of puffing activity and chromosomal polymorphism in Drosophila subobscura I. J. and U chromosomes
1982
A study of the puffing patterns of the Jst, J1, U1−2, U1−2−8 and Ust chromosomal arrangements of Drosophila subobscura, from different geographical origins, has been carried out. Twenty-eight puffs were observed, 10 on the J chromosome, and 18 on the U chromosome. No differences, whether qualitative or quantitative, have been found between the puffing pattern of the J chromosome, whether from the same of different geographical background. In the U chromosome, the U1−2 and U1+2+8 arrangements show the same puffing pattern, and neither quantitative nor qualitative differences were found. However, the puffing pattern of these chromosomes alters considerably in the Ust arrangement of the K228 l…
On the genetics of the pi serum proteins.
1970
The authors report family studies (51 families with 134 children) on the inheritance of the Pi phenotypes. Combining these data with a Norwegian family material (77 families with 323 children) published by Fagerhol and Gedde-Dahl (1969) a total of 128 families with 457 children is now available, which allows the following conclusion: The Pi phenotypes are inherited by a simple codominant mode of heredity and they are determined by a set of (at least nine) alleles. As up to now no exception to the role of inheritance has been observed, the application of the Pi system in cases of disputed paternity seems to be discussible. Some methodological problems in connection with this are shown.
Changes in chromosomal polymorphism when selecting for a neutral trait inDrosophila subobscura
1986
The changes which occurred in the chromosomal polymorphism ofDrosophila subobscura when selecting for abdominal bristle number were analysed. A decrease in the diversity of arrangements and an increase in homozygosity over the selection experiment were found. These changes were stronger in selection than in control lines.
Studies on the population genetics of the ceruloplasmin polymorphism
1969
Phenotype and gene frequencies of the ceruloplasmin polymorphism are reported. In all populations considered here (Germans, Icelanders, Iranians, Pakistani, and Koreans) high frequencies of the allele CpB (0.978–0.996) could be observed, whilst the frequencies of the alleles CpA (0.003–0.013) and CpC (0.000–0.013) are very low.
A new polymorphism in the human HFE gene
1999
On the population genetics of the ceruloplasmin polymorphism
1972
The frequencies of Cp-variants in 3 European, 1 Asiatic and 3 African populations are reported. The most striking fact is the high incidence of the CpA-allele not only in the African but also in 2 European samples.