6 results on '"Nancarrow DJ"'
Search Results
2. A linkage study of schizophrenia to markers within Xp11 near the MAOB gene.
- Author
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Dann J, DeLisi LE, Devoto M, Laval S, Nancarrow DJ, Shields G, Smith A, Loftus J, Peterson P, Vita A, Comazzi M, Invernizzi G, Levinson DF, Wildenauer D, Mowry BJ, Collier D, Powell J, Crowe RR, Andreasen NC, Silverman JM, Mohs RC, Murray RM, Walters MK, Lennon DP, and Crow TJ
- Subjects
- Chromosome Mapping, Cohort Studies, Genes, Dominant genetics, Genes, Recessive genetics, Genetic Markers genetics, Humans, Lod Score, Models, Genetic, Schizophrenia diagnosis, Genetic Linkage genetics, Monoamine Oxidase genetics, Schizophrenia genetics, Schizophrenic Psychology, Sex Chromosome Aberrations genetics, X Chromosome
- Abstract
A sex chromosome locus for psychosis has been considered on the basis of some sex differences in genetic risk and expression of illness, and an association with X-chromosome anomalies. Previous molecular genetic studies produced weak evidence for linkage of schizophrenia to the proximal short arm of the X-chromosome, while some other regions were not ruled out. Here we report an attempt to expand the Xp findings in: (i) a multicenter collaboration focusing on 92 families with a maternal pattern of inheritance (Study I), and (ii) an independent sample of 34 families unselected for parental mode of transmission (Study II). In the multicenter study, a parametric analysis resulted in positive lod scores (highest of 1.97 for dominant and 1.19 for recessive inheritance at a theta of 0.20) for locus DXS7, with scores below 0.50 for other markers in this region (MAOB, DXS228, and ARAF1). Significant allele sharing among affected sibling pairs was present at DXS7. In the second study, positive lod scores were observed at MAOB (highest of 2.16 at a theta of 0.05 for dominant and 1.64 at a theta of 0.00 for recessive models) and ALAS2 (the highest of 1.36 at a theta of 0.05 for a recessive model), with significant allele sharing (P = 0.003 and 0.01, respectively) at these two loci. These five markers are mapped within a small region of Xp11. Thus, although substantial regions of the X-chromosome have been investigated without evidence for linkage being found, a locus predisposing to schizophrenia in the proximal short arm of the X-chromosome is not excluded.
- Published
- 1997
- Full Text
- View/download PDF
3. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.
- Author
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Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, and Gardner RJ
- Subjects
- Base Sequence, Chromosome Mapping, Connexin 26, Connexins, DNA analysis, Genetic Markers, Humans, Lod Score, Molecular Sequence Data, Pedigree, White People genetics, Chromosomes, Human, Pair 13, Deafness genetics, Genetic Linkage, Genetics, Population
- Abstract
Classical studies have demonstrated genetic heterogeneity for nonsyndromic autosomal recessive congenital neurosensory deafness, with at least six loci postulated. Linkage analysis in two consanguineous Tunisian kindreds has demonstrated that one such deafness locus, DFNB1, maps near chromosome 13 markers D13S175, D13S143, and D13S115. We tested these markers for cosegregation with deafness in 18 New Zealand and 1 Australian nonconsanguineous kindreds, each of which included at least two siblings with nonsyndromic presumed congenital sensorineural deafness and that had a pedigree structure consistent with autosomal recessive inheritance. When all families were combined, a peak two-point lod score of 2.547 (theta = .1) was obtained for D13S175, 0.780 (theta = .2) for D13S143, and 0.664 (theta = .3) for D13S115. While there was no statistically significant evidence for heterogeneity at any of the three loci tested, nine families showed cosegregation of marker haplotypes with deafness. These observations suggest that the DFNB1 locus may make an important contribution to autosomal recessive neurosensory deafness in a Caucasian population. In the nine cosegregating families, phenotypic variation was observed both within sibships (in four families), which indicates that variable expressivity characterizes some genotypes at the DFNB1 locus, and between generations (in two families), which suggests allelic heterogeneity.
- Published
- 1995
4. Confirmation of chromosome 9p linkage in familial melanoma.
- Author
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Nancarrow DJ, Mann GJ, Holland EA, Walker GJ, Beaton SC, Walters MK, Luxford C, Palmer JM, Donald JA, and Weber JL
- Subjects
- Adult, Age of Onset, Genetic Predisposition to Disease, Humans, Lod Score, Middle Aged, Chromosomes, Human, Pair 9, Genetic Linkage, Melanoma genetics
- Abstract
Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG.
- Published
- 1993
5. Linkage mapping of melanoma (MLM) using 172 microsatellite markers.
- Author
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Nancarrow DJ, Walker GJ, Weber JL, Walters MK, Palmer JM, and Hayward NK
- Subjects
- Chromosome Mapping, Female, Genetic Markers, Genetic Predisposition to Disease, Humans, Lod Score, Male, Pedigree, DNA, Satellite genetics, Genetic Linkage, Melanoma genetics
- Abstract
The incidence of malignant melanoma is currently increasing faster than any other cancer and in 5-12% of cases occurs in a familial context in which the disease cosegregates as an autosomal dominant trait. To identify the location of genes that predipose individuals to familial melanoma (MLM), we have carried out linkage analysis in three large Australian melanoma pedigrees using 172 microsatellite markers spread across all autosomes. Three additional smaller families were typed for 70 of the same markers. In five of the six families we found lod scores between 1.0 and 2.3, which may provide evidence for the location of melanoma genes in proximity to some of these markers. If this turns out to be the case, these data potentially demonstrate that MLM is genetically heterogeneous since there was no marker for which all families gave significantly high LODs. These data provide the foundation for an exclusion map for melanoma and, more importantly, high-light areas of the genome for others to substantiate the potential positions of some of the genes that may be responsible for susceptibility to MLM.
- Published
- 1992
- Full Text
- View/download PDF
6. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study
- Author
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Levinson, DF, Wildenauer, DB, Schwab, SG, Albus, M, Hallmayer, J, Lerer, B, Maier, W, Blackwood, D, Muir, W, StClair, D, Morris, S, Moises, HW, Yang, L, Kristbjarnarson, H, Helgason, T, Wiese, C, Collier, DA, Holmans, P, Daniels, J, Rees, M, Asherson, P, Roberts, Q, Cardno, A, Arranz, MJ, Vallada, H, McGuffin, D, Owen, MJ, Pulver, AE, Antonarakis, SE, Babb, R, Blouin, JL, DeMarchi, N, Dombroski, B, Housman, D, Karayiorgou, M, Ott, J, Kasch, L, Kazazian, H, Lasseter, VK, Loetscher, E, Luebbert, H, Nestadt, G, Ton, C, Wolyniec, PS, Laurent, C, deChaldee, M, Thibaut, F, Jay, M, Samolyk, D, Petit, M, Campion, D, Mallet, J, Straub, RE, MacLean, CJ, Easter, SM, ONeill, FA, Walsh, D, Kendler, KS, Gejman, PV, Gershon, E, Badner, J, Beshah, E, Zhang, J, Riley, BP, Rajagopalan, S, MogudiCarter, M, Jenkins, T, Williamson, R, DeLisi, LE, Garner, C, Kelly, M, LeDuc, C, Cardon, L, Lichter, J, Harris, T, Loftus, J, Shields, G, Comasi, M, Vita, A, Smith, A, Dann, J, Joslyn, G, Gurling, H, Kalsi, G, Brynjolfsson, J, Curtis, D, Sigmundsson, T, Butler, R, Read, T, Murphy, P, Chen, ACH, Petursson, H, Byerley, B, Hoff, M, Holik, J, Coon, H, Nancarrow, DJ, Crowe, RR, Andreasen, N, Silverman, JM, Mohs, RC, Siever, LJ, Endicott, J, Sharpe, L, Lennon, DP, Hayward, NK, Sandkuijl, LA, Mowry, BJ, Aschauer, HN, Meszaros, K, Lenzinger, E, Fuchs, K, Heiden, AM, Kruglyak, L, Daly, MJ, and Matise, TC
- Subjects
genotype ,RELATIVES ,DNA MARKERS ,POTENTIAL LINKAGE ,ILLNESS ,collaboration ,polymorphism ,AFFECTIVE-DISORDERS ,schizophrenia ,SIB-PAIR LINKAGE ,SUSCEPTIBILITY GENES ,genetic linkage ,GENOME-WIDE SEARCH ,LOCUS ,HETEROGENEITY - Abstract
In response to reported schizophrenia linkage findings on chromosomes 3, 6 and 8, fourteen research groups genotyped 14 microsatellite markers in an unbiased, collaborative (New) sample of 403-567 informative pedigrees per marker, and in the Original sample which produced each finding (the Johns Hopkins University sample of 40-52 informative pedigrees for chromosomes 3 and 8, and the Medical College of Virginia sample of 156-191 informative pedigrees for chromosome 6). Primary planned analyses (New sample) were two-point heterogeneity lod score (lod2) tests (dominant and recessive affected-only models), and multipoint affected sibling pair (ASP) analysis, with a narrow diagnostic model schizophrenia and schizoaffective disorders), Regions with positive results were also analyzed in the Original and Combined samples. There was no evidence for linkage on chromosome 3. For chromosome 6, ASP maximum lod scores (MLS) were 2.19 (New sample, nominal p = .001) and. 2.68 (Combined sample, p = .0004). For chromosome 8, maximum lod2 scores (tests of linkage with heterogeneity) were 2.22 (New sample, p = .0014) and 3.06 (Combined sample, p = .00018). Results are interpreted as inconclusive hut suggestive of linkage in the latter two regions. We discuss possible reasons for failing to achieve a conclusive result in this large sample, Design issues and limitations of this type of collaborative study are discussed, and it is concluded that multicenter follow-up linkage studies of complex disorders can help to direct research efforts toward promising regions.
- Published
- 1996
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