Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 | Journal of Medical...
Multipoint linkage analysis was performed using genehunter version 2.1.14 The genetic intermarker distances were inferred from ... no genetic linkage between spinal disc herniation and spastic paraplegia has ever been described. ... 12 Two point linkage analysis was carried out using the MLINK program from the LINKAGE package version 5.2,13 assuming ... From a genetic point of view, little information has so far been available on possible susceptibility loci. As far as lumbar ...
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. | Journal of...
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. ... Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. ...
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses | Journal of...
Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci. Genes Brain Behav 2014; ... These hotspot rearrangements have been associated with genetic generalised epilepsies (GGEs), but not with genetic focal ... reflecting the incomplete penetrance that is common in the genetic epilepsies.23 Indeed, for other genetic variants associated ... Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008;40:29-31.doi: ...
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of...
1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum ... Two NPC1 cell lines (GM03123 and GM110) were obtained from the Human Genetic Mutant Cell Depository, Coriell Institute for ...
Linkage studies in peripheral neurofibromatosis. | Journal of Medical Genetics
Peripheral neurofibromatosis (NF) is one of the most common major genetic disorders in man. Its chromosomal location is unknown ... We have ascertained and sampled several large multi-generation families for linkage studies including one family of 66 subjects ... We are now in the process of screening additional RFLPs and families for linkage to NF. ... and LDR111 failed to show a significant linkage (Z [lod score] greater than or equal to 3.00) in this family. In addition, the ...
The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families. |...
It is an extension of classic genetic linkage analysis, which enables information on loss of constitutional heterozygosity ( ... One of the major benefits of this approach is that isolated parent-offspring pairs are now potentially informative for linkage ...
Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36 | Journal of Medical Genetics
... rejects overall linkage to this region under the presumed genetic model of Carteret al.4 However, NPL score (1.02, p=0.15) and ... Centre for Genetic Epidemiology, The University of Melbourne, Carlton, Australia *. 164ICRF Genetic Epidemiology Laboratory, St ... 1 and performed linkage analysis using GENEHUNTER2 with the following genetic map3: D1S1160 - 3.835 cM - D1S1597 - 4.339 cM - ... However, linkage was tested only at D1S407 and hlod scores were not reported. Our maximum lod, NPL, and hlod scores generally ...
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). | Journal of Medical Genetics
A genetic linkage study between benign hereditary chorea and the locus D4S10 using the DNA probe G8 has shown two ... Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). ... Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). ... There were negative lod scores at recombination fractions that show conclusive evidence of linkage in 16 larger British ...
Guidelines for a genetic risk based approach to advising women with a family history of breast cancer | Journal of Medical...
the Breast Cancer Linkage Consortium. (1994) Risks of cancer in BRCA1-mutation carriers. Lancet 343:692-695. ... Genetic risks fall with increasing age so women who might be eligible at 40 for additional mammography on grounds of genetic ... there is still a residual genetic risk from unidentified genes.4 The estimated residual genetic risk is lower than predicted by ... 1991) Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48:232-242. ...
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination,...
By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a ... 1985) Multilocus linkage analysis in humans; detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498. ... Linkage data were evaluated with the program LINKAGE6 using the Mlink option. Calculations were based on complete penetrance ... 15 It would be interesting to perform linkage analysis in this large family to see whether its genetic defect colocalises with ...
An exclusion map for Von Recklinghausen neurofibromatosis. | Journal of Medical Genetics
By using all the genetic linkage data available between Von Recklinghausen neurofibromatosis (VRNF) and various loci on the ...
Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. |...
... genetic prediction of carrier status was made using X chromosome inactivation studies together with limited genetic linkage ... FISH and genetic linkage analysis showed clearly that the affected chromosome had been inherited. The implications of this ... Linkage studies in this family showed a confusing pattern of inheritance for the X chromosome. A female with a random pattern ...
A common variant of CDKN2A (p16) predisposes to breast cancer | Journal of Medical Genetics
... or that the A148T variant is in linkage disequilibrium with another genetic alteration that does affect protein function. We ... This level of genetic homogeneity has enabled us to find founder alleles of several other breast cancer genes, including BRCA1 ... During the interview the goals of the study were explained, informed consent was obtained, genetic counselling was given, and a ... Of these, 3627 women (76%) accepted the invitation to participate in the genetic study. The medical record and pathology report ...
Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease...
Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus. A GISC study. Eur J ... Linkage disequilibrium analysis between markers carried out using the EHPLUS program24 showed that significant linkage ... Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21. Eur J Hum Genet2001;9 ... 26 In our previous linkage study in IBD families,10 we found non-parametric linkage scores larger than 1 in our subset of UC ...
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast...
... and the Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast ... Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet1991;48:232-42. ... Genome-wide scanning for linkage in Finnish breast cancer families. Eur J Hum Genet2004;12:98-104. ... which is relative close to the 2q32 chromosome region indicated by a genome-wide linkage analysis to segregate with breast ...
Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. | Journal of...
This study in our family indicates absence of close linkage between the Xga locus and the X-linked recessive form of ... From the analysis of the families reported in the literature, there appears to be genetic heterogeneity in this disease. ... Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. ... Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. ...
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. |...
We identified a Spanish family with negative linkage to the PKD1 and the PKD2 loci. This family showed a very mild clinical ... More recently, evidence for a third genetic locus has been found in one Portuguese, one French-Canadian, and one Italian family ... Most families show positive linkage to polymorphic markers around the PKD1 (16p13.3) or PKD2 (4q21-23) loci. The PKD1 and PKD2 ...
A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both. | Journal of Medical Genetics
Either the FAMMM syndrome is a rare genetic entity not closely linked to HLA or the association and transmission of precursor ... Close linkage could be excluded in (1) and (3). However, if the transmission of malignant melanoma itself were assumed to be ... A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both. ... A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both. ...
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS...
Linkage mapping of a non-specific form of X-linked mental retardation (MRX53) in a large Pakistani family. Am J Med Genet2001; ... Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS ... Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS ...
Peutz-Jeghers families unlinked toSTK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma |...
... a rare genetic disorder, which is dominantly inherited. In addition to the typical hamartomatous gastrointestinal polyps and ... and linkage studies. ... Furthermore, genetic heterogeneity has been reported, which ...
Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22 | Journal of...
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-7. ... Suggestive evidence of linkage was obtained on chromosome 8q (LOD = 2.29 at genetic map location 92 cM) with the combined ... We conducted statistical genetic analyses (heritability and VC linkage analysis) on the separate scores of the three music ... Robust variance-components approach for assessing genetic linkage in pedigrees. Am J Hum Genet 1994;54:535-43. ...
Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian...
Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, ... The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA ...
Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1-4 for identification of...
They used linkage analysis of N-ethyl-N-nitrosourea treated (A/J × C57BL/6J) Fl × C57BL/6J backcross progeny. This finding was ... Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nat Genet1997;16:19-27. ... Much genetic variation between people is a result of random mutation at specific nucleotide positions. These single nucleotide ... Pas1 appears at the distal end of chromosome 6 with genetic position of the flanking markers at the left and the marker names ...
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss | Journal of...
Objective We sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family. ...
Association of 3′-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease | Journal of Medical...
Genetic variations in four genes have been directly linked to the pathogenesis of AD. Mutations in three genes coding for the ... Indeed, a repeat polymorphism in the 3′-UTR of OLR1 has shown the strongest evidence of linkage on chromosome 12 with AD.40 ... Kang DE, Saitoh T, Chen X, Xia Y, Masliah E, Hansen LA, Thomas RG, Thal LJ, Katzman R.. Genetic association of the low-density ... Taylor AE, Yip A, Brayne C, Easton D, Evans JG, Xuereb J, Cairns N, Esiri MM, Rubinsztein DC.. Genetic association of an LBP-1c ...
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk | Journal...
Genetic analyses. With ethical approval from the relevant institutional review boards, we then initiated large-scale genetic ... Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-6. ... In another genetic study of several BRCA1/2 sequence variants, Gomez Garcia et al25 examined the R1699Q and R1699W variants as ... Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet 2006;43:74-83. ...
Table of contents | Journal of Medical Genetics
Linkage and association of the HLA gene complex with IDDM in 81 Danish families: strong linkage between DR beta 1Lys71+ and ... Improved genetic mapping of X linked retinoschisis. (1 November, 1996) Free N D George, S J Payne, R M Bill, D E Barton, A T ...
ASPM mutations identified in patients with primary microcephaly and seizures | Journal of Medical Genetics
Genome-wide linkage screen with 10 k SNP microarray, fine mapping with microsatellite markers, and mutational analysis of the ... Ethics approval: The genetic study was approved by Beth Israel Deaconess Medical Center Institutional Review Board. Appropriate ... Background: Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci ( ...
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis | Journal of Medical Genetics
Methods and results By linkage analysis and exome sequencing, we identified deleterious mutations in SLC35A3 in these patients ... 1Monique and Jacques Roboh, Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. ... Correspondence to Professor Orly Elpeleg, Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University ... 3Bonei Olam Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA. ...
Table of contents | Journal of Medical Genetics
Prenatal diagnosis of genetic disorders. (1 June, 1976) M F Niermeijer, E S Sachs, M Jahodova, C Tichelaar-Klepper, W J Kleijer ... X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. (1 June, 1976) M ...