Results 231 to 240 of about 259,248 (266)

RANDOM GENETIC DRIFT IN MULTI-ALLELIC LOCUS

Evolution, 1955
In the theory that evolution is anl irregularly shifting state of balance, especially that of a subtle balance between the evolutionary pressures of mutation, immigration and selection as a group and random or stochastic processes which give rise to processes of trial and error (Wright, 1950), the process of random genetic drift is one of the problems ...
openaire   +1 more source

Genetic linkage between erythrokeratodermia variabilis and Rh locus

Human Genetics, 1984
A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals.
J G, van der Schroeff, L E, Nijenhuis, P, Meera Khan, L F, Bernini, G M, Schreuder, E, van Loghem, W S, Volkers, L N, Went   +7 more
openaire   +2 more sources

Genetics of the Rh-Hr Locus in Humans

Acta geneticae medicae et gemellologiae, 1975
An analysis is attempted to throw more light on the inheritance of rhesus factor in humans and the Fisher-Race and Wiener's concepts are respectively evaluated.It is claimed that the Rh-Hr locus is not comprised of the recombination of C, D, E, c and e genes, much less the help of the auxiliary (d) which merely appears to be a conventional approach ...
S S, Zaidi, S, Bebon, S H, Taqvi
openaire   +2 more sources

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Annals of Neurology, 1999
In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene.
B A, Minassian, J, Sainz, J M, Serratosa, M, Gee, L M, Sakamoto, S, Bohlega, G, Geoffroy, C, Barr, S W, Scherer, U, Tomiyasu, S, Carpenter, K, Wigg, A V, Sanghvi, A V, Delgado-Escueta   +13 more
openaire   +2 more sources

Genetics of the relB locus in Escherichia coli

Journal of Bacteriology, 1977
A mutant of Escherichia coli with a delayed relaxed phenotype very similar to that of a previously described relB mutant has been obtained using a new selection procedure. The mutation giving rise to this phenotype has been shown to map at 34.5 min and to be 12% cotransducible with man. It is recessive, revertible, and most likely an allele of the relB
B, Diderichsen, N P, Fiil, R, Lavallé
openaire   +2 more sources

Identical genetic locus for Baltic and Mediterranean myoclonus

The Lancet, 1992
Genetic linkage analysis shows that Baltic and Mediterranean myoclonus, two forms of progressive myoclonus epilepsy, are closely linked to marker D21S113 on the long arm of chromosome 21. Baltic and Mediterranean myoclonus are most probably due to mutations of the same gene.
A, Malafosse, A E, Lehesjoki, P, Genton, P, Labauge, G, Durand, C A, Tassinari, C, Dravet, R, Michelucci, A, de la Chapelle   +8 more
openaire   +2 more sources

Somatic and germline genetics at the JAK2 locus

Nature Genetics, 2009
Myeloproliferative neoplasms are hematological malignancies frequently associated with somatically acquired mutation of the JAK2 gene. A new study shows that these mutations are preferentially found within a particular inherited JAK2 haplotype, implying the existence of a strong, but uncharacterized, interaction between somatic and germline genetics at
openaire   +2 more sources

Acid Phosphatase Locus 1 Genetic Polymorphism and Cancer Grading

The American Journal of the Medical Sciences, 2012
Currently, there is a surge of interest on the possible relationship between cancer and acid phosphatase locus 1 (ACP(1)), an enzyme involved in the modulation of growth factors and cellular metabolism. As far as the authors know, the possible relationship between ACP(1) genetic variability and cancer grading has not yet been considered.
GLORIA, FULVIA, SPINA, CLAUDIO, Nicotra, M, SACCUCCI, PATRIZIA, Ambrosi, S, BOTTINI, EGIDIO   +5 more
openaire   +3 more sources

Developmental Genetics of Specific Locus Mutations

1983
The remarkable complexities of eukaryotic gene organization and gene expression have received much emphasis in recent years. Whereas the organizational characteristics of polycistronic operons in E. coli are fairly well understood and appear quite straight forward, those of eukaryotes are considerably more complex as exemplified particularly by the ...
openaire   +1 more source

Molecular and Genetic Analyses at the CF Locus

1991
Cystic fibrosis (CF) is the most frequent lethal autosomal recessive disorder of Caucasian populations. The disease incidence is commonly quoted as 1 in 2500 (Boat et al., 1989), but varies widely in different populations. Frequencies as low as 1:90,000 exist (Wright and Morton, 1968), and as high as 1:377 in Brittany (Bois et al., 1978), 1:313 in the ...
K W, Klinger, P, Stanislovitis, J, Merrill, G T, Horn   +3 more
openaire   +2 more sources