Search results for "Polymorphism"

Reliability of Restriction Enzyme Digestions of Genomic DNA for the Generation of DNA Fingerprints

1991

Since minisatellite DNA probes are used for the detection of hypervariable loci in eucaryotic genomes [1] the application of so called DNA fingerprints and DNA technology itself in paternity testing and forensic casework is critically discussed ([3]; Brinkmann et al., this volume). A particular problem is the possibility of obtaining partially digested genomic DNA in casework after treatment with restriction enzymes leading to inconclusive or even false results. This is even more important when multilocus DNA probes are used, since the total number of fragments in a given person is not known in advance. But also with single locus probes, where only two allelic fragments are usually detected…

Polymorphisms of inversions and Adh alleles in eye colour mutant experimental populations of Drosophila melanogaster

1987

Zur H�ufigkeit der Serumprotein-Polymorphismen Hp, Gc, Gm, InV und Lp in Griechenland

1967

The authors report the frequencies of Hp-, Gc-, Gm-, InV-, and Lp-phenotypes and alleles in a Greek sample of 218 unrelated adult males and females. The following gene-frequencies were obtained: Hp1=.2850, Hp2=.7150; Gc1=.7590, Gc2=.2410; Gm1=.1555, Gm1,2=.1015, Gm12=.7430. The phenotype InV (1) was found to be 14.6%. Lp (ax)-typing showed 17.0% strong positive individuals, 9.7% weak positive ones, and 73.3% negatives. According to Speiser and Pausch (1965) this may be interpreted as the following phenotypes distribution: Lp (a+x+)=17.0%, Lp(a+x-)=9.7%, and Lp(a-x-)=73.3%. Our data differ somewhat from data obtained by other authors, which seems to indicate heterogeneity in the distribution…

2006

On the basis of their biological function, potential genetic candidates for susceptibility to rheumatoid arthritis can be postulated. IFNGR1, encoding the ligand-binding chain of the receptor for interferon gamma, IFNγR1, is one such gene because interferon gamma is involved in the pathogenesis of the disease. In the coding sequence of IFNGR1, two nucleotide positions have been described to be polymorphic in the Japanese population. We therefore investigated the association of those two IFNGR1 single nucleotide polymorphisms with rheumatoid arthritis in a case-control study in a central European population. Surprisingly, however, neither position was polymorphic in the 364 individuals exami…

TP53 mutations and S-phase fraction but not DNA-ploidy are independent prognostic indicators in laryngeal squamous cell carcinoma

2005

ToprospectivelyevaluatetheprognosticsignificanceofTP53,H-,K-,andN-Rasmutations,DNA-ploidyandS-phasefraction(SPF) in patients affected by locally advanced laryngeal squamous cell carcinoma (LSCC). Eight-one patients (median follow-up was 71 months) who underwent resective surgery for primary operable locally advanced LSCC were analyzed. Tumor DNA was screened for mutational analysis by PCR/SSCP and sequencing. DNA-ploidy and SPF were performed byflow cytometric analyses. Thirty-six patients (44%) had, at least, a mutation in the TP53 gene. Of them, 22% (8/36) had double mutations and 3% (1/36) had triplemutations.Intotal,46TP53mutationswereobserved.Themajority(41%)oftheseoccurinexon5(19/46),…

PATTERNS OF PUFFING ACTIVITY AND CHROMOSOMAL POLYMORPHISM IN DROSOPHILA SUBOBSCURA . IV. EFFECT OF INVERSIONS ON GENE EXPRESSION

1988

We have observed that, contrary to a common assumption, the puffing patterns manifest in the salivary chromosomes of Drosophila subobscura are modified by chromosomal inversions as well as by genic content. An inversion effect is apparent in the E and A chromosomes of five strains coming from four different natural populations. An effect due to the geographical location of the populations is also detected in the J and O chromosomes. The chromosomal and geographic effects are distinguishable but not contradictory. Indeed, a statistical test using the DK2 coefficient of distance shows that, for a given chromosomal arrangement, strains of different geographic origin exhibit puffing patterns si…

Patterns of puffing activity and chromosomal polymorphism in Drosophila subobscura II. Puffing patterns at the prepupa stage

1985

Puffing activity patterns of the five large polytene chromosomes of Drosophila subobscura were studied during the late third-larval instar and through the prepupal period. A total of 166 loci active in some of the eleven stages studied were described. The distribution of these active loci per chromosome is the following: 25 on chromosome A, 33 on chromosome J, 31 on chromosome U, 34 on chromosome E and 43 on chromosome O. Seven principal patterns of puffing activity were defined taking into account the different curves of the puffing histograms. Gene activities per chromosome as well as total were analysed. Three peaks of gene activity at the beginning, middle and ending of prepupation can …

No Association Between the Dopamine D2 Receptor Taq I A1 Allele and Earlier Age of Onset of Alcohol Dependence According to Different Specified Crite…

2001

BACKGROUND: The presence of the A1 allele of the dopamine D2 receptor TaqI restriction fragment length polymorphism has been reported to be associated with an earlier age of onset of alcohol dependence as a marker for severity. METHODS: We tested this hypothesis with special regard to the definition of the age of onset of alcoholism in 243 patients with alcohol dependence, according to DSM-IV criteria assessed by the standardized interview Munchner Composite International Diagnostic Interview (M-CIDI), consecutively admitted for detoxification. Additionally, the Addiction Severity Index (ASI) was performed. The TaqIA polymorphism was amplified by polymerase chain reaction (PCR), and the PCR…

Karyotype analysis, nucleolar organizer regions(NORs), and C-banding pattern of Dicentrarchus iabrax(L.) and Dicentrarchus punctatus(Block, 1792)(Pis…

1990

Chromosomes of Dicentrarchus labrax and Dicentrarchus punctatus collected from the Gulf of Palermo are examined from kidney cells. The diploid chromosome number in both species is 2n=48. Ag-NOR and C-banding analyses revealed the presence of structural chromosomal polymorphism involving pair 1.A comparative analysis among the Giemsa, NOR- and C-banded karyotypes suggests that a close phylogenetic relationship between D. labrax and D. punctatus occurs. There are evidences for a conservative evolutionary trend in this genus.

Chromosomal polymorphism associated with Robertsonian fusion in Seriola dumerili (Risso, 1810) (Pisces: Carangidae)

1986

The diploid numbers 2n= 48, and 2n= 47 have been determined for the greater amberjack, Seriola dumerili. A chromosome polymorphism due to Robertsonian fusion is present in this species. A simple sex-determining mechanism has not been observed.