Comparison Of Gene Frequencies Research Articles

Comparison of gene frequencies of short tandem repeats loci on Y Chromosome between offenders with initiative-aggressive behavior and impulsive-aggressive behavior

Objective To explore the distributional differences of the gene frequencies of 22 short tandem repeats loci on Y Chromosome(Y-STRs) between offenders with Initiative-aggressive behavior and impulsive-aggressive behavior, and to probe into the genetic factors of initiative-aggressive behavior and impulsive-aggressive behavior. Methods Biological samples of 271 offenders with initiative-aggressive behavior and 271 offenders with impulsive-aggressive behavior were collected and PCR compound amplification was carried out with the aid of PowerPlex Y23 System. Then the PCR products were subjected to electrophoresis and gene detection with AB3500xL gene analysis system so as to calculate and compare the alleles and haplotypes of 22 Y-STRs gene frequency in the two groups. Results The distribution of allele frequency were significantly difference in locus DYS437(P=0.022)between two groups, not in the other 21 Y-STRs loci(all P>0.05). Univarite analysis showed significant differences at allelle 14 in locus DYS437 between both groups(initiative-aggressive behavior group: 69.37%; impulsive-aggressive behavior group: 58.67%; P=0.009). Conclusion Loci DYS437 may be associated with aggressive behavior. In the group of aggressive behavior, allelle 14 on locus DYS437 may be the susceptible factor of initiative-aggressive behavior and the resistant factor of impulsive-aggressive. Key words: Initiative-aggressive behavior; Impulsive-aggressive; Human Y chromosome; Short tandem repeats(STRs); Genetic polymorphism

Comparison of gene frequencies of 15 STR loci between offenders with active-aggressive behavior and passive-aggressive behavior in Jiangsu province

Comparison of gene frequencies of 15 STR loci between offenders with active-aggressive behavior and passive-aggressive behavior in Jiangsu province

XPD Lys751Gln Polymorphism and Etiology and Outcome of Childhood Acute Myeloid Leukemia.

Genetic polymorphism results in inter-individual variation in DNA repair capacity, and may in part account for susceptibility of a cell to genotoxic agents, and to malignancy. The DNA repair protein xeroderma pigmentosum complementation group D (XPD) is a major participant in the neucleotide excision repair pathway and is also involved in transcription initiation and in the control of cell cycle and apoptosis. Several studies have found associations between ineffective DNA repair and cancer risk. It is also thought that ineffective DNA repair may lead to additional genomic instability and tumors that are more aggressive. Several single nucleotide polymorphisms including an adenine to cytosine polymorphism leading to Lys751Gln in exon 23 of XPD have been shown to be associated with elevated frequency of chromosomal aberrations and variety of environmentally induced cancers in adults. We hypothesized that XPD polymorphism may play a role in causation of childhood AML. In addition, there are data that XPD polymorphism influences outcome of chemotherapy in adults with solid tumors. Therefore, we also evaluated its effect on outcome of AML therapy. Methods: 457 children treated for AML on CCG studies 2941 and 2961 (intensive induction with daunorubicin, idarubicin, Ara-C, 6-thioguanine, etoposide, dexamethasone, +/− fludarabine, Ara-C, idarubicin; consolidation with high-dose Ara-C and L-asparaginase or HLA-matched sibling BMT) were genotyped for XPD exon 23 polymorphism. Genotype frequencies were compared with published normal control frequencies. In addition, patient outcomes were analyzed according to genotype. Results: Comparison of gene frequencies in AML patients and reported normal controls showed similar frequencies (42.5% AA, 44.2% AC, 13.3% CC in patients vs. 44.2% AA, 45% AC, 10.8% CC in controls; p=0.54). There were no significant difference in OS (p=0.56), EFS (p=0.61), TRM (p=0.5) or relapse rate (p=0.88) between patients with 751AA genotype vs. 751AC/751CC genotypes, in contrast to reports in adult malignancies. Stratification of cases by age at diagnosis, white blood count at diagnosis, AML subtype, or cytogenetics revealed no difference in genotype frequencies. Conclusion: These data, representing the only data in pediatric AML, suggest that XPD genotype does not affect the etiology or outcome of childhood AML.

FAS Promoter Polymorphism and Etiology and Outcome of Childhood Acute Myeloid Leukemia.

FAS (TNFRSF6/CD95/APO-1) is a cell surface receptor involved in apoptotic signal transmission. Dysregulation of this pathway is believed to result in down regulation of apoptosis and subsequent persistence of a malignant clone. A single nucleotide polymorphism resulting in guanine-to-adenine transition in the FAS promoter region occurs at position −1377, affecting an SP1 transcription factor binding site; an adenine residue at position −1377 of FAS promoter significantly reduces SP1 binding compared to guanine residue causing a decrease in FAS expression. Recent data in adult leukemia indicate that a variant allele at this site increases susceptibility to AML (Morgan et al; Cancer Research 63, 4327–4330). We hypothesized that FAS genotype would also increase risk of childhood AML and, by altering susceptibility to apoptosis might impact outcome of AML therapy. Methods: 442 children treated for AML on CCG studies 2941 and 2961 (intensive induction with daunorubicin, idarubicin, Ara-C, 6-thioguanine, etoposide, dexamethasone, +/− fludarabine, Ara-C, idarubicin; consolidation with high-dose Ara-C and L-asparaginase or HLA-matched sibling BMT) were genotyped for the −1377 FAS promoter polymorphism using mismatch amplification coupled with real time PCR (MAMA assay). Genotype frequencies were compared with published normal control frequencies. In addition patient outcomes were analyzed according to genotype.Results: Comparison of gene frequencies in AML patients and reported normal controls showed similar frequencies (78.7% GG, 18.6% GA, 2.7% AA in patients vs. 78% GG, 20% GA and 2% AA in controls; p=0.6). Stratification of cases by age at diagnosis, white blood count at diagnosis, AML subtype, or cytogenetics revealed no difference in genotype frequencies. Outcome data showed no significant difference in OS (p=0.22), EFS (p=0.31), TRM (p=0.42) or relapse rate (p=0.57) between patients with 1377GG genotype vs. 1377GA/1377AA genotypes. However, there was trend towards improved survival (OS at 5 years 75% AA, 55% GA, 49% GG; p=0.16) and EFS (66% AA, 43% GA, 39% GG; p=0.19) in AA cases, but small numbers (n=12 AA) may have contributed to the results not being statistically significant. Conclusion: These data, representing the only data in pediatric AML, suggest that FAS genotype does not affect the etiology of childhood AML and that children with AML differ from adults in terms of biology of their disease. However, further studies are needed to evaluate a potentially important role of FAS genotype in outcome of AML therapy.

Genetic Structure of Natural Populations of Agaricus bisporus, the Commercial Button Mushroom

Agaricus bisporus (Lange) Imbach, the familiar button mushroom of commerce, is a major vegetable crop around the world. In the past 10 years a significant worldwide effort has been made to collect Agaricus germ plasm from the wild. Here we report the genetic analysis of a collection of 342 isolates from 12 locations. For 10 nuclear loci marked by RFLPs, we found high genetic diversity in all geographic populations. Among the 342 isolates, three different analyses of genetic diversity were carried out: the first on the total sample of 342 isolates, the second on a subset of 108 isolates shown previously to carry either of the two mitochondrial DNA haplotypes found in cultivated strains, and the third on the other 234 isolates that carry a diversity of mtDNA haplotypes not found in cultivated strains. We found that the samples of cultivar-like isolates from various locations were genetically more similar among themselves and to the cultivars than to the samples of other isolates from the same locations. Furthermore, the cultivar-like samples showed no evidence of genetic differentiation between continents and between regions within a continent. In contrast, samples of other isolates showed significant differentiation at the same levels of the geographic hierarchy. A comparison of gene frequencies was consistent with the occurrence of hybridization between the cultivar-like and the other strains in the coastal California population. Analyses of genetic diversity and genetic distance were all consistent with the historical record that cultivars and cultivar-like strains in the wild originated from Western Europe.

Population genetics of the peoples of Iran I. Genetic polymorphisms of blood groups, serum proteins and red cell enzymes

Genetic polymorphisms of six blood groups and seven biochemical genetic markers were investigated in six Iranian populations (Turks, Kurds, Lurs, Zabolis, Baluchis and Zoroastrians). Eight of the genetic systems (ABO, MNSs, Kidd, C3, AP, AK, PGM1 and EsD) showed conclusive heterogeneity among these populations. Comparison of gene frequencies with the few available samples of Iranian populations demonstrated an intra-ethnic and extensive overall genetic diversity in the Iranian plateau. A gradient of C3*F gene was also discernible within the geographical region of Iran which may reflect the relics of the historical movements of different racial groups in this region. The present genetic variation may reflect the differences in the structure of these populations, the analysis of which is further attempted in the accompanying paper.

Bulgarian Jews in Israel: genetic blood markers. Red-cell antigens, serum proteins and red-cell isozymes.

Two hundred and sixteen unrelated Bulgarian Jews were typed for the following genetic systems: ABO, MNS, Rh, Kell and Duffy of the blood groups; ADA, AK1, ACP1, ESD, GLO, PGD, PGM1 and PGM2 of the red-cell enzymes, and for the serum proteins HP, GC and PI. A comparison of observed gene frequencies with those of two other Sephardi Jewish groups, from Libya and Morocco, disclosed significant heterogeneity in several systems. This was mostly due to Moroccan Jews differing from Bulgarian or from both the Libyan and Bulgarian Jews. A comparison of gene frequencies in Bulgarian Jews with those in Oriental Jews from Iraq and in Ashkenazi Jews from Poland disclosed a similarity between the three groups in Rh, ADA, GLO, PGM1 and HP. The frequencies for the above systems in the three groups were closer to those of Middle Easterners than to those of Europeans. A different pattern was observed for GC and PI, in which Bulgarian resembled Polish Jews and differed significantly from Iraqi Jews. This probably reflects an outcome of convergent adaptive processes.

The HLA system in the Korean population

The frequencies of HLA-A, B, C, DR, and DQ antigens, HLA-D (HTC-defined) haplotypes, and the HLA-linked genetic markers glyoxalase I (GLO), factor B(Bf), C2 and C4 were studied in 162 healthy unrelated Koreans. Antigens A2, A24, A26, B44, B51, Bw62, B35, Cw1, Cw3, DR2, DR4, DRw6, DR7, and DRw8 were observed at frequencies of 15% or greater, and GLO-2, BfS, C4A ∗3, C2C, C4A ∗4, C4B ∗1, and C4B ∗2 were also frequently observed. The antigens A23, A25, B18, Bw42, and B21 were not observed at all. HLA-DR4 was the most common class II antigen and was associated with a series of HLA-D-defined haplotypes including Dw4, Dw10, Dw13, and Dw15. The HLA-DRw6, DR2, Dw8, and DRw8 haplotypes were also found frequently. DR2 haplotypes were either Dw2 or Dw12, while all DRw8 haplotypes tested corresponded to the DB7 or Dw “8.3” specificity that has been described in other Oriental populations. Significant linkage disequilibrium was found between the alleles A2,Cw1; A30,B13; A30,Cw6; A30,DR7; Cw1,Bw22; Cw5,B12; Cw6,B13; Cw6,DR7; B7,DR1; B12,Dw6; B12,DR7; B12,Dw7; B13,DR7, B17,DR3; Bw22,C4B ∗6; DRw6,BfF; and C4A ∗4,C4B ∗2. A comparison of gene frequencies and commonly observed haplotypes between Koreans, Chinese, Japanese, and Caucasians showed that while Koreans share several characteristics in common with other Oriental populations, there are allelic frequencies and haplotypes in Koreans that are distinct.

The HLA System in the Campania Region: A Genetic Study

The HLA-A, -B and -C locus gene frequencies and the significant A, B and B, C haplotypes of the population of Campania (Southern Italy) are reported. From a comparison of gene frequencies and from an overall genetic distance evaluation with other European and Mediterranean populations the typical Mediterranean structure of the Campanian population is confirmed. While keeping several Middle Eastern features, it places itself as far from Northern Italy (Bergamo) as from the Spanish and the French populations. Among all the groups compared, including Turkish and Lebanese, the largest distance is measured from the English, the Danish and the German populations.

A Population Genetic Study of the Kota in the Nilgiri Hills, South India

A population genetic study among the Kota of the Nilgiri Hills, South India, involved tests for abnormal haemoglobins, 5 red cell antigen systems, 4 serum protein and 13 red cell enzymes systems. Twelve systems are invariant in the Kota. The most distinctive characteristics are extremely low frequency of the A1 gene and complete absence of A2 in the ABO system, r(cde) in the Rh system, LDH cal-1 among the enzyme systems as well as absence of abnormal haemoglobins. A comparison of gene frequencies in those systems, which show variation, suggests that the Kota are more similar to the Toda than to any other tribal or caste population of the area. Genetic distance as well principal component analysis also reveals that the Toda and Kota are close to each other, in agreement with tradition.

Transferrins in Macaca irus.

Various transferrin phenotypes have been found in Macaca irus and their distribution conforms to the Hardy-Weinberg law. The genetics of these phenotypes is discussed. A survey of published studies shows that there are several systems of naming transferrins, and consequently, comparison of gene frequencies is not possible. For this reason, the nomenclature proposed for macaque red acid phosphatases in a previous study has been adopted for use here.