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Unaffected Relatives (unaffected + relative)

Distribution by Scientific Domains

Medical Sciences	80%

Selected Abstracts

Lateralization of hand skill in bipolar affective disorder

GENES, BRAIN AND BEHAVIOR, Issue 8 2007
J. Savitz
Diverse strands of evidence suggest that schizophrenia is associated with an excess of left and mixed handedness, reflecting anomalous cerebral lateralization. Genetic studies have indicated a degree of overlap between bipolar disorder (BPD) and schizophrenia. Nevertheless, pattern of handedness and degree of lateralization have not been explicitly tested in BPD. We measured handedness, footedness and relative manual dexterity in a sample of 47 families comprising BPD probands and their bipolar-spectrum and unaffected relatives (N = 240). The BPD I sample (N = 55) was significantly more lateralized on handedness, footedness and relative manual dexterity than their unaffected relatives (N = 66). They were also more lateralized than their relatives with other psychiatric diagnoses. No evidence of excess mixed handedness or footedness was observed in the BPD I sample. We raise the possibility that schizophrenia and BPD I differ in that disproportionate left-hemisphere dominance in BPD I is associated with right-hemisphere dysfunction leading to deficits in emotional regulation. Given our results, we hypothesized that degree of lateralization may be a phenotypic marker or endophenotype for BPD I. We therefore conducted a family-based genetic association analysis with this quantitative trait. Relative hand skill was significantly associated with a functional variant in the catechol- O -methyltransferase gene. We speculate that this polymorphism may influence brain lateralization. [source]

Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray

GENES, CHROMOSOMES AND CANCER, Issue 4 2005
Anneke C. J. Ammerlaan
Ependymomas frequently display allelic loss of chromosome 22 in the absence of mutations in the known tumor-suppressor genes on chromosome 22, suggesting the role of an alternative predisposing gene or genes from this chromosome. In an effort to localize these genes, 37 ependymomas derived from 33 patients were analyzed for the presence of copy number changes by use of a high-resolution chromosome 22 genomic microarray. Eighteen ependymomas (49%) displayed an array-CGH profile consistent with monosomy of chromosome 22. However, in 10 of these tumors, the fluorescence ratios for 22q clones scored as deleted were different from those at the single gene copy level. This suggests either analysis of mixed populations of tumor and normal stromal cells or analysis of mixed tumor cell populations with different genetic profiles. Four ependymomas derived from two patients showed overlapping interstitial deletions of 2.2 Mb and ,510 kb. Further analyses revealed that these deletions were present in the constitutional DNA of these two patients as well as in some of their unaffected relatives. Detailed microsatellite analysis of these families refined the commonly deleted segment to a region of 320 kb between markers RH13801 and D22S419. Our results provide additional evidence for the involvement of genes on chromosome 22 in the development of ependymoma and suggest the presence of a low-penetrance ependymoma susceptibility locus at 22q11. © 2005 Wiley-Liss, Inc. [source]

Anti- Saccharomyces Cerevisiae antibodies (ASCA), phenotypes of IBD, and intestinal permeability: A study in IBD families

INFLAMMATORY BOWEL DISEASES, Issue 1 2001
Severine Vermeire
Abstract Background Serologic markers anti- Saccharomyces cerevisiae antibodies (ASCA) and antineutrophil cytoplasmic antibodies with perinuclear staining (pANCA) have been proposed to study the immunopathogenesis of IBD. Their measurement may allow better phenotyping of the disease and the detection of subclinical disease. Aims To test the hypothesis that serological markers identify an immunologic trait related to disease susceptibility. We also wanted to test the hypothesis that ASCA is a marker related to abnormal tissue permeation by common antigens. Methods We studied the prevalence of pANCA and ASCA in a large cohort of sporadic and familial inflammatory bowel diseases and their unaffected relatives and spouses. Kinetics of ASCA was studied and the relationship between ASCA and 51Cr-EDTA intestinal permeation was investigated. Results ASCA was associated with sporadic Crohn's disease (CD) (63%), with Crohn's patients belonging to pure CD families (62%) and also with their unaffected family members (21%). pANCA was associated with UC (58%). The prevalence of ASCA in CD patients belonging to mixed families was strikingly low (33%). ASCA was a stable marker throughout the disease and was not related to an increased small intestinal permeability. Conclusion ASCA is strongly associated with familial CD in Belgium, and 21% of healthy family members also display the marker. The association is much weaker in patients belonging to mixed families. ASCA is a stable marker and is not a secondary phenomenon due to increased intestinal permeability. [source]

Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population

ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2002
K Neiswanger
Structured Abstract Authors , Neiswanger K, Cooper ME, Weinberg SM, Flodman P, Bundens Keglovits A, Liu Y, Hu D-N, Melnick M, Spence MA, Marazita ML Objective , To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Design , Case , control study with two control groups (genetically related and unrelated). Setting and Sample Population , A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Methods , Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. Results , In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. Conclusion , These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting. [source]

Genetic analysis in Leber's hereditary optic neuropathy using the comparative genomic hybridization technique

CLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 5 2003
Clinical Research
Abstract Background:,Nuclear genes are suggested to be involved in the pathogenesis of Leber's hereditary optic neuropathy (LHON) but it has not been confirmed. The aim of the present study was to investigate chromosomal abnormalities associated with LHON. Methods:,In a prospective study, comparative genomic hybridization (CGH) was used to analyse genetic changes in five patients with LHON with an 11778 mitochondrial DNA mutation and three asymptomatic maternal relatives. Results:,There were no significant genetic copy number alterations detected in the five visually affected patients or in the three unaffected maternal relatives as compared to unrelated normal controls. Conclusion:,The CGH technique did not detect any chromosomal abnormalities in LHON patients or in unaffected relatives. Nuclear gene involvement, however, cannot be ruled out. [source]