Absolute pitch (AP) is the ability to recognize a pitch, without an external reference. By surveying more than 600 musicians in music conservatories, training programs, and orchestras, we have ...attempted to dissect the influences of early musical training and genetics on the development of this ability. Early musical training appears to be necessary but not sufficient for the development of AP. Forty percent of musicians who had begun training at ≤4 years of age reported AP, whereas only 3% of those who had initiated training at ⩾9 years of age did so. Self-reported AP possessors were four times more likely to report another AP possessor in their families than were non–AP possessors. These data suggest that both early musical training and genetic predisposition are needed for the development of AP. We developed a simple computer-based acoustical test that has allowed us to subdivide AP possessors into distinct groups, on the basis of their performance. Investigation of individuals who performed extremely well on this test has already led us to identify several families that will be suitable for studies of the genetic basis of AP.
Familial Aggregation of Absolute Pitch Baharloo, Siamak; Service, Susan K.; Risch, Neil ...
American journal of human genetics,
09/2000, Letnik:
67, Številka:
3
Journal Article
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Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and ...environment interactions in the development of complex human behaviors. Individuals who score exceptionally well on formalized auditory tests of pitch perception are designated as “AP-1.” As described in this report, auditory testing of siblings of AP-1 probands and of a control sample indicates that AP-1 aggregates in families. The implications of this finding for the mapping of loci for AP-1 predisposition are discussed.
It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a ...previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by searching for chromosome segments shared by only three distantly related patients. The screening results were confirmed by identifying an extended haplotype conserved between the patients. Probability calculations indicate that such segment sharing is unlikely to arise by chance. Searching the genome for segments shared by patients is a powerful empirical method for mapping disease genes. Computer simulations suggest that, in appropriate populations, the approach may be used to localize genes for common diseases.
Introduction: This study was designed to evaluate the effects of treatment with flaxseed oil (FSO) on renal ischemia-reperfusion (RIR) injuries in rats. Materials and methods: In this study, 32 ...Wistar rats were randomly studied in four groups: Co+NS (Control group with normal saline administration), Sh+NS (sham group with normal saline administration), RIR+NS and RIR+FSO. FSO (0.2 ml) was administered orally (gavage) for 14 days (~ 800 mg/kg body weight). Blood samples were collected for the detection of blood urea nitrogen (BUN) and creatinine levels. Malondialdehyde (MDA) and superoxide dismutase (SOD) levels were evaluated in the renal tissue. Tubular damages were examined using histopathological studies. Results: Significantly elevated MDA (P<0.05) and depressed SOD levels (P<0.05) Comparison between RIR+NS group and Control+NS and Sh+NS groups revealed in the condition of RIR. Treatment with FSO, however, significantly lowered the MDA (P<0.05) and enhanced SOD levels (P<0.05) after RIR injury. Histopathological results confirmed the biochemical studies and tubular necrosis score was reduced in the RIR+FSO group. Conclusion: This study therefore suggests that the aqueous flaxseed oil may be useful agents for the prevention of renal ischemia-reperfusion (RIR)-induced oxidative injury in rats.
Although there are several methods for genotyping previously identified single nucleotide polymorphisms (SNPs), there is a paucity of approaches for high-throughput scanning for unknown variations. ...Mismatch repair detection (MRD) utilizes a bacterial mismatch repair system in vivo to detect sequence variants in human DNA samples. We describe modifications in MRD that allow a high degree of parallel processing, and use this modified version to accurately scan for variations in 35 different human DNA fragments simultaneously. MRD's potential for high-throughput scanning can be used to identify new SNPs and to comprehensively compare sequences between patients and controls for identifying disease susceptibility alleles.
Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a ...search for shared haplotypes in patients in two isolated populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders, drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible caveats regarding this method of genetic mapping.
Introduction: The present study aimed to determine the effects of a selected group exercise on motor skills and cognitive function in children with Autism Spectrum Disorders (ASDs). Methods: Forty ...children with ASD aged 5-12 years participated in this quasi-experimental study. The Bruininks–Oseretsky Test of Motor Proficiency (BOTMP), and the Wisconsin Card Sorting Test (WCST) were performed in 3 assessment stages of baseline, pretest, and posttest in Sports, Play, and Active Recreation for Kids (SPARK). The repeated-measures Analysis of Variance (ANOVA) and Analysis of Covariance (ANCOVA) were used for analyzing the collected data. Results: The current research results demonstrated that the selected exercises presented positive effects on motor skills (P<0.05) in the studied subjects; however, they indicated no significant effects on their cognitive function (P>0.05). Conclusion: According to the present study results, the SPARK’s training is effective on children with ASDs and severe mobility limitations; however, it presented no cognitive function improvement in the study participants.
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