Search results for "Human Genetics"

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.

Eine Vereineachung der Para-amino-hippur-S�urebestimmung

1952

HLA typing from RNA-Seq sequence reads.

2012

We present a method, seq2HLA, for obtaining an individual's human leukocyte antigen (HLA) class I and II type and expression using standard next generation sequencing RNA-Seq data. RNA-Seq reads are mapped against a reference database of HLA alleles, and HLA type, confidence score and locus-specific expression level are determined. We successfully applied seq2HLA to 50 individuals included in the HapMap project, yielding 100% specificity and 94% sensitivity at a P-value of 0.1 for two-digit HLA types. We determined HLA type and expression for previously un-typed Illumina Body Map tissues and a cohort of Korean patients with lung cancer. Because the algorithm uses standard RNA-Seq reads and …

αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family

1985

The presence of the αααanti-4.2 haplotype and heterozygous β° thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (−α4.2) and indicate that this may not be rare. Furthermore, although the β thalassemia determinant in this family has a severe expression, the interaction with the triplicated α gene does not necessarily express itself as thalassemia intermedia.

Beobachtungen zum Mosaizismus beim Cri-du-chat-Syndrom

1969

Two cases of the cri-du-chat-syndrome are described, one with mosaicism in regard to the deletion, the other with probable differences of the size of the deletion. In both cases there have been found a few cells, where the distal part of the short arm of a B-chromosome has been satellited.