DNA Fingerprinting: Single-Locus Analysis

2005 ◽  
Vol 35 (11) ◽  
pp. 1589-1598 ◽  
Author(s):  
HSIAO-FAN LIN ◽  
YU-LI LIU ◽  
CHIH-MIN LIU ◽  
SHUEN-IU HUNG ◽  
HAI-GWO HWU ◽  
...  

Background. We test the hypothesis that the neuregulin 1 (NRG1) gene at chromosome 8p22-p12, which has been implicated as a susceptibility gene to schizophrenia, is associated with variations in schizotypal personality in non-clinical populations.Method. A randomly selected sample of 905 adolescents were assessed for their personality features using the Perceptual Aberration Scale (PAS) and the Schizotypal Personality Questionnaire (SPQ) and genotyped for three single nucleotide polymorphisms (SNP8NRG221533, rs3924999, and rs2954041) at the NRG1 gene. Relations between the three genetic variants and continuous schizotypal personality scores were evaluated using ANOVA for single-locus analyses and haplotype trend regression test for multi-locus analyses.Results. Single locus analysis showed that the A allele of rs3924999, a functional polymorphism in exon 2, had the largest effect size and exhibited a prominent allele–dose trend effect for the PAS score. Haplotype analyses using the haplotype trend regression test indicated that the A allele of rs3924999 was mainly responsible for the association with the PAS but not with the SPQ or its three factors, and the magnitude of significance was not strengthened by the combination of this allele with adjacent locus.Conclusions. Our study provides the first evidence for the association of NRG1 with schizotypal personality and indicates a possible role of NRG1 in the genetic etiology of schizophrenia through perceptual aberrations.


2020 ◽  
Vol 20 (2) ◽  
pp. 465-483
Author(s):  
Alessandro Lima Machado ◽  
Ariana Nascimento Meira ◽  
Evandro Neves Muniz ◽  
Hymerson Costa Azevedo ◽  
Luiz Lehmann Coutinho ◽  
...  

Abstractµ-calpain (CAPN1) and calpastatin (CAST) genes play key roles in protein turnover. The present study aimed to identify the variants in these genes associated with growth and ultrasound carcass traits in Santa Inês sheep. A sample of 192 no full sibling Santa Inês lambs was used. Fragments of the CAST and CAPN1 genes were amplified and next-generation sequencing was performed in the MiSeq platform. Variants in the CAPN1 and CAST sequences were then detected using bioinformatic tools. Withers and croup heights, body length, thoracic and croup widths, thoracic and leg girths, body depth, carcass fat score, rib eye area, fat thickness, body weights were recorded at weaning and at 140 days post-weaning, and average daily gain post-weaning was calculated. Both single-locus and haplotype association analyses were performed with the model as follows: farm (2 levels), year (4 levels), the month of birth (12 levels), and the covariate age of the animal. The fragments amplified included 4,514 bp between the 20th and 23rd exons of CAST as well as 3,927 bp between the 12th and 21st exons of CAPN1. In these regions, 58 (CAST) and 45 (CAPN1) variants were identified. In the CAST gene, the single-locus analysis revealed 22 suggestive additive effects (P<0.05) on several growth and carcass traits. Moreover, haplotype substitutions were associated with rib eye area (–0.689±0.290), average daily gain (–23.6±10.4), thoracic girth (–2.72±1.27), body length (–3.38±1.49), and leg girth (–2.84±1.37). Regarding the CAPN1 gene, the single-locus analysis identified seven suggestive additive effects, while only one haplotype replacement effect on fat thickness (–0.0143±0.0053) was detected. The results of the present study suggest that variants in the CAPN1 and CAST genes are associated with growth and ultrasound carcass traits in Santa Inês sheep, which may be a source of information to improve knowledge regarding the genetic control of these traits.


Genetics ◽  
1996 ◽  
Vol 144 (3) ◽  
pp. 1005-1013 ◽  
Author(s):  
Howard S Judelson

Abstract Mating type in the oomyceteous fungus, Phytophthora infestans, is determined by a single locus. In a previous study of a few isolates, the locus segregated in a manner genetically consistent with its linkage to a system of balanced lethal loci. To determine the prevalence of this phenomenon within P. infestans, genetic analyses were performed using isolates representative of the diversity within the species that had been selected by DNA fingerprinting using probes linked to mating type. Non-Mendelian segregation of the mating type locus was observed in crosses performed with each isolate. An unusual group of isolates was identified in which the mating type determinants had been rearranged within the genome; these strains also produced an aberrantly large number of self-fertile progeny. Curiously, in all isolates, markers linked to the mating type locus appeared prone to duplication, transposition, deletion, or other rearrangement. This was not observed for loci unlinked to mating type. Data from the crosses and analyses of marker variation were used to erect models to explain the bases of mating type determination and of the unusual segregation of the chromosomal region containing the mating type locus.


1991 ◽  
Vol 4 (6) ◽  
pp. xxiv
Author(s):  
F. Crosti ◽  
A.B. Begovich ◽  
F. Baggi ◽  
M. Armanini ◽  
O. Simoncini ◽  
...  

1994 ◽  
Vol 34 (3) ◽  
pp. 256-262
Author(s):  
Michael Krawczak ◽  
Jörg Schmidtke ◽  
Jörg T Epplen ◽  
Ingo Hansmann ◽  
Ulrike Thies

An unusual case of paternity testing is reported in which determination of paternity was an essential part of a genetic diagnosis. A.Y-chromosomal abnormality, observed in a 33-year-old male whose wife had experienced a series of spontaneous abortions, was not found in his alleged father. DNA fingerprinting with the oligonucleotide multilocus probe (CAC)5 yielded two aberrant bands for the proband, i.e. bands exhibited by neither parent. This finding resulted in a comparatively low paternity probability of 0.02934 which is suggestive of, but does not unequivocally prove, false paternity. Subsequent analysis with other multi- and single-locus systems, however, failed to confirm this preliminary result. The paternity probability computed on the basis of the single-locus systems was 0.99997, providing compelling evidence in favour of true paternity. The present case thus demonstrates that even when two mutations turn up in a DNA fingerprint, these may be readily recognized as such.


Planta Medica ◽  
2006 ◽  
Vol 72 (11) ◽  
Author(s):  
S Sukrong ◽  
T Phadungcharoen ◽  
N Ruangrungsi

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